References of "Balling, Rudi 50000566"
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See detailVon Knick- und Ringelschwänzen - Mäuse als Modellorganismus
Balling, Rudi UL

in Forschung-Mitteilungen der DFG (1996), (2), 13-14

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See detailRbt (Rabo torcido), a new mouse skeletal mutation involved in anteroposterior patterning of the axial skeleton, maps close to the Ts (tail-short) locus and distal to the Sox9 locus on chromosome 11.
Hustert, E.; Scherer, G.; Olowson, M. et al

in Mammalian Genome (1996), 7(12), 881-5

Rbt (Rabo torcido) is a new semidominant mouse mutant with a variety of skeletal abnormalities. Heterozygous Rbt mutants display homeotic anteroposterior patterning problems along the axial skeleton that ... [more ▼]

Rbt (Rabo torcido) is a new semidominant mouse mutant with a variety of skeletal abnormalities. Heterozygous Rbt mutants display homeotic anteroposterior patterning problems along the axial skeleton that resemble Polycomb group and trithorax gene mutations. In addition, the Rbt mutant displays strong similarities to the phenotype observed in Ts (Tail-short), indicating also a homeotically transformed phenotype in these mice. We have mapped the Rbt locus to an interval of approximately 6 cM on mouse Chromosome (Chr) 11 between microsatellite markers D11Mit128 and D11Mit103. The Ts locus was mapped within a shorter interval of approximately 3 cM between D11Mit128 and D11Mit203. This indicates that Rbt and Ts may be allelic mutations. Sox9, the human homolog of which is responsible for the skeletal malformation syndrome campomelic dysplasia, was mapped proximal to D11Mit128. It is, therefore, unlikely that Ts and Rbt are mouse models for this human skeletal disorder. [less ▲]

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See detailDevelopment of the vertebral column: Morphogenesis and genes
Wilting, J; Müller, T S; Ebensperger, C et al

in Vorgel, R; Fanghaenel, J; Giebel, J (Eds.) Aspects of Teratologie (1996)

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See detailCharacterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1.
Neubuser, A.; Koseki, H.; Balling, Rudi UL

in Developmental Biology (1995), 170(2), 701-16

Pax9, a recently identified mouse paired-box-containing gene, is highly homologous to Pax1 and belongs to the same subfamily as Pax1, Hup48, PAX9, and pox meso. Two overlapping cDNA clones spanning the ... [more ▼]

Pax9, a recently identified mouse paired-box-containing gene, is highly homologous to Pax1 and belongs to the same subfamily as Pax1, Hup48, PAX9, and pox meso. Two overlapping cDNA clones spanning the entire coding region of Pax9 were isolated and sequenced. A comparison of the Pax1 and -9 protein sequences reveals a high degree of similarity even outside the paired box, while the carboxy-terminus of the two proteins diverges completely. We demonstrate that Pax9 can bind to the e5 sequence from the Drosophila even skipped promoter, which is also recognized by Pax1. We analyzed the expression of Pax9 during embryogenesis of wildtype, Undulated short-tail (Uns), and Danforth's short tail (Sd) mice. In wildtype embryos Pax9 is expressed in the pharyngeal pouches and their derivatives, the developing vertebral column, the tail, the head, and the limbs. Expression of Pax9 is unaffected in Uns embryos, in which the Pax1 gene is deleted, arguing that expression of Pax9 is not dependent on Pax1. The expression of Pax9 is lost in the caudal part of Sd homozygous embryos, suggesting that expression of Pax9 in the vertebral column is dependent on the notochord. These results indicate that both Pax9 and -1 may act in parallel during morphogenesis of the vertebral column. [less ▲]

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See detailChromosomal localization of the murine cadherin-11.
Hoffman, I.; Balling, Rudi UL

in Mammalian Genome (1995), 6(4), 304

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See detailAssignment of the paired box gene Pax1 to rat chromosome 3.
Otsen, M.; Balling, Rudi UL; Den Bieman, M. et al

in Mammalian Genome (1995), 6(9), 666-7

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See detailVon Mäusen und Menschen In: “Genetische Determinierung: Schicksal aus den Genen?”
Balling, Rudi UL

in GSF-Mensch und Umwelt (1995), (10), 17-23

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See detailA gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
Lynch, S. A.; Bond, P. M.; Copp, A. J. et al

in Nature Genetics (1995), 11(1), 93-5

Sacral agenesis is a rare disorder of uncertain incidence that has been reported in diverse populations. Although usually sporadic and most commonly associated with maternal diabetes, there is a ... [more ▼]

Sacral agenesis is a rare disorder of uncertain incidence that has been reported in diverse populations. Although usually sporadic and most commonly associated with maternal diabetes, there is a hereditary form which may occur in isolation or with a presacral mass (anterior meningocele and/or presacral teratoma) and anorectal abnormalities, which constitute the Currarino triad (MIM 176450). The radiological hallmark of hereditary sacral agenesis is a hemi-sacrum (sickle-shaped sacrum) with intact first sacral vertebra. Bowel obstruction is the usual neonatal presentation, but, unlike other neural tube defects, adult presentation is not uncommon. The major pathology is confined to the pelvic cavity and may present as a space-occupying lesion or meningitis due to ascending infection. All recurrences in families have been compatible with autosomal dominant inheritance except for those associated with the isomerism gene at Xq24-q27.1 (ref. 3). Several associated cytogenetic defects have been reported, including 7q deletions. Previous studies failed to detect linkage to HLA markers, but we now present evidence for a location on 7q36. The same region also contains a gene for holoprosencephaly, an early malformation of the extreme rostral end of the neural tube. [less ▲]

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See detailInteraction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.
Helwig, U.; Imai, K.; Schmahl, W. et al

in Nature Genetics (1995), 11(1), 60-3

The aetiology of spina bifida involves genetic and environmental factors, which may be why major genes contributing to pathogenesis have not been identified. Here we report that undulated-Patch double ... [more ▼]

The aetiology of spina bifida involves genetic and environmental factors, which may be why major genes contributing to pathogenesis have not been identified. Here we report that undulated-Patch double-mutant mice have a phenotype reminiscent of an extreme form of spina bifida occulta in humans. This unexpected phenotype in double-mutant but not single-mutant mice shows that novel congenital anomalies such as spina bifida can result from interaction between products of independently segregating loci. This example of digenic inheritance may explain the often sporadic nature of spina bifida in humans. [less ▲]

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See detailCloning and expression analysis of a novel mesodermally expressed cadherin.
Hoffmann, I.; Balling, Rudi UL

in Developmental Biology (1995), 169(1), 337-46

Cadherins are calcium-dependent cell adhesion molecules which show developmental and tissue-specific expression. Here we report the cloning of a mouse cadherin which is predominantly expressed in tissues ... [more ▼]

Cadherins are calcium-dependent cell adhesion molecules which show developmental and tissue-specific expression. Here we report the cloning of a mouse cadherin which is predominantly expressed in tissues of mesodermal origin. In contrast to other cadherins, cadherin-11 expression is largely restricted to mesenchymal tissues surrounding various organs but is not found in epithelia. Sequence analysis suggests that this cadherin is the mouse homologue of the previously reported human cadherin-11 and is a member of a cadherin subfamily, which is evolutionarily distinct from other cadherin subfamilies identified so far. [less ▲]

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See detailPax-1, a regulator of sclerotome development is induced by notochord and floor plate signals in avian embryos.
Ebensperger, C.; Wilting, J.; Brand-Saberi, B. et al

in Anatomy & Embryology (1995), 191(4), 297-310

Pax-1 encodes for a DNA-binding transcriptional activator that was originally discovered in murine embryos using a probe from the Drosophila paired-box-containing gene, gooseberry-distal. We have cloned ... [more ▼]

Pax-1 encodes for a DNA-binding transcriptional activator that was originally discovered in murine embryos using a probe from the Drosophila paired-box-containing gene, gooseberry-distal. We have cloned the avian Pax-1 gene as a basis for experimental studies of the induction of Pax-1 in the paraxial mesoderm. The amino acid sequence of the paired-domain is exactly the same in the quail and mouse, whereas outside the paired-domain there is 61% homology. Starting at about the eight-somite stage, quail Pax-1 is expressed in the paraxial mesoderm in a craniocaudal sequence. The unsegmented paraxial mesoderm and the two most recently formed somites do not express Pax-1. In the epithelial somite, the somitocoele cells and the cells of the ventral two-thirds of the epithelial wall are positive. As soon as the sclerotome is formed, only a subset of sclerotome cells expresses Pax-1. These are the cells that migrate towards the notochord to form the perinotochordal tube. Expression then becomes restricted to the intervertebral discs, the perichondrium of the vertebral bodies and the connective tissue surrounding the spinal ganglia. Additional expression domains are found in the scapula and the pelvic region, distinct areas of the head, and the epithelium of the second to the fourth visceral pouch. In later stages the thymus is positive. In vitro and in vivo experiments show that the notochord induces Pax-1 in the paraxial mesoderm, but limb bud mesoderm is not competent to respond to notochordal signals. Floor plate is also capable of inducing Pax-1 expression in sclerotome cells. Our studies show that in competent cells of the paraxial mesoderm, Pax-1 is a mediator of signals emanating from the notochord and the floor plate. [less ▲]

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See detail[Transgenic mice--biological fundamentals, practices and applications].
Balling, Rudi UL

in DTW. Deutsche tierarztliche Wochenschrift (1994), 101(3), 94-5

The transfer of genes into the germline of mice has become a standard technique of modern biomedical research. In addition to direct microinjection of DNA into the pronuclei of fertilized mouse eggs ... [more ▼]

The transfer of genes into the germline of mice has become a standard technique of modern biomedical research. In addition to direct microinjection of DNA into the pronuclei of fertilized mouse eggs, genes can now also be inactivated via homologous recombination in embryonic stem cells (gene targeting). In the future it will be possible to inactivate any cloned gene via homologous recombination in ES-cells and establish corresponding mouse mutants. [less ▲]

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See detailThe role of Pax-1 in axial skeleton development.
Wallin, J.; Wilting, J.; Koseki, H. et al

in Development (1994), 120(5), 1109-21

Previous studies have identified a single amino-acid substitution in the transcriptional regulator Pax-1 as the cause of the mouse skeletal mutant undulated (un). To evaluate the role of Pax-1 in the ... [more ▼]

Previous studies have identified a single amino-acid substitution in the transcriptional regulator Pax-1 as the cause of the mouse skeletal mutant undulated (un). To evaluate the role of Pax-1 in the formation of the axial skeleton we have studied Pax-1 protein expression in early sclerotome cells and during subsequent embryonic development, and we have characterized the phenotype of three different Pax-1 mouse mutants, un, undulated-extensive (unex) and Undulated short-tail (Uns). In the Uns mutation the whole Pax-1 locus is deleted, resulting in the complete absence of Pax-1 protein in these mice. The other two genotypes are interpreted as hypomorphs. We conclude that Pax-1 is necessary for normal vertebral column formation along the entire axis, although the severity of the phenotype is strongest in the lumbar region and the tail. Pax-1-deficient mice lack vertebral bodies and intervertebral discs. The proximal part of the ribs and the rib homologues are also missing or severely malformed, whereas neural arches are nearly normal. Pax-1 is thus required for the development of the ventral parts of vertebrae. Embryonic analyses reveal that although sclerotomes are formed in mutant embryos, abnormalities can be detected from day 10.5 p.c. onwards. The phenotypic analyses also suggest that the notochord still influences vertebral body formation some days after the sclerotomes are formed. Furthermore, the notochord diameter is larger in mutant embryos from day 12 p.c., due to increased cell proliferation. In the strongly affected genotypes the notochord persists as a rod-like structure and the nucleus pulposus is never properly formed. Since the notochord is Pax-1-negative these findings suggest a bidirectional interaction between notochord and paraxial mesoderm. The availability of these Pax-1 mutant alleles permitted us to define an early role for Pax-1 in sclerotome patterning as well as a late role in intervertebral disc development. Our observations suggest that Pax-1 function is required for essential steps in ventral sclerotome differentiation, i.e. for the transition from the mesenchymal stage to the onset of chondrogenesis. [less ▲]

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See detailExpression and function of Pax 1 during development of the pectoral girdle.
Timmons, P. M.; Wallin, J.; Rigby, P. W. et al

in Development (1994), 120(10), 2773-85

Pax 1 is a member of the paired-box containing gene family. Expression has previously been observed in the developing sclerotomes and later in the anlagen of the intervertebral discs. Analysis of Pax 1 ... [more ▼]

Pax 1 is a member of the paired-box containing gene family. Expression has previously been observed in the developing sclerotomes and later in the anlagen of the intervertebral discs. Analysis of Pax 1-deficient undulated mice revealed an important role for this gene in the development of the axial skeleton, in which Pax 1 apparently functions as a mediator of notochordal signals during sclerotome differentiation. Here we demonstrate that Pax 1 is also transiently expressed in the developing limb buds. A comparative phenotypic analysis of different undulated alleles shows that this expression is of functional significance. In mice that are mutant for the Pax 1 gene severe developmental abnormalities are found in the pectoral girdle. These include fusions of skeletal elements which would normally remain separate, and failures in the differentiation of blastemas into cartilaginous structures. Although Pax 1 is also expressed in the developing hindlimb buds and Wolffian ridge, no malformations could be detected in the corresponding regions of Pax 1 mutant mice. These findings show that, in addition to its role in the developing vertebral column, Pax 1 has an important function in the development of parts of the appendicular skeleton. [less ▲]

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See detailMouse genetics and the development of vertebral column development
Balling, Rudi UL; Koseki, H; Wallin, J et al

in Proceedings Greenwood Genetics Center (1994), (13), 58-60

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See detailInitial steps of myogenesis in somites are independent of influence from axial structures.
Bober, E.; Brand-Saberi, B.; Ebensperger, C. et al

in Development (1994), 120(11), 3073-82

Formation of paraxial muscles in vertebrate embryos depends upon interactions between early somites and the neural tube and notochord. Removal of both axial structures results in a complete loss of ... [more ▼]

Formation of paraxial muscles in vertebrate embryos depends upon interactions between early somites and the neural tube and notochord. Removal of both axial structures results in a complete loss of epaxial myotomal muscle, whereas hypaxial and limb muscles develop normally. We report that chicken embryos, after surgical removal of the neural tube at the level of the unsegmented paraxial mesoderm, start to develop myotomal cells that express transcripts for the muscle-specific regulators MyoD and myogenin. These cells also make desmin, indicating that the initial steps of axial skeletal muscle formation can occur in the absence of the neural tube. However, a few days following the extirpation, the expression of MyoD and myogenin transcripts gradually disappears, and becomes almost undetectable after 4 days. From these observations we conclude that the neural tube is not required for the generation of the skeletal muscle cell lineage, but may support the survival or maitenance of further differentiation of the myotomal cell compartment. Notochord transplanted medially or laterally to the unsegmented paraxial mesoderm leads to a ventralization of axial structures but does not entirely prevent the early appearance of myoblasts expressing MyoD transcripts. However, the additional notochord inhibits subsequent development and maturation of myotomes. Taken together, our data suggest that neural tube promotes, and notochord inhibits, the process of myogenesis in axial muscles at a developmental step following the initial expression of myogenic bHLH regulators. [less ▲]

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See detailThe undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?
Balling, Rudi UL

in Clinical Dysmorphology (1994), 3(3), 185-91

The mouse is a very useful system for the analysis of vertebral column development, particularly as a model for human skeletal diseases. A large number of mutant mouse strains exist with specific ... [more ▼]

The mouse is a very useful system for the analysis of vertebral column development, particularly as a model for human skeletal diseases. A large number of mutant mouse strains exist with specific inherited skeletal defects. Undulated (un) is one of these mutants showing abnormalities of the vertebral bodies and intervertebral discs. The gene responsible for un has been identified as the Pax-1 gene, a member of the Pax-gene family. A human disease homologue to un is not known so far. In order to facilitate identification of a potential human PAX-1 disease, an overview is given describing what is currently known about the pathological and molecular analysis of un. It is hoped that this will help medical geneticists and dysmorphologists to identify a potential human disease, which corresponds to a mutation in the PAX-1 gene. [less ▲]

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See detailThe genetics of skeletal development.
Balling, Rudi UL; Ebensperger, C.; Hoffmann, I. et al

in Annales de Génétique (1993), 36(1), 56-62

A genetic analysis of biologic processes has provided substantial advances in developmental biology. Whereas the genetic analysis of Drosophila is a potent system, recently developed tools have enabled a ... [more ▼]

A genetic analysis of biologic processes has provided substantial advances in developmental biology. Whereas the genetic analysis of Drosophila is a potent system, recently developed tools have enabled a genetic analysis of the development of vertebrates. For these studies, numerous mouse mutants are available and many more will be introduced in the near future. Mutations involving the skeleton are easy to detect. This article reports the phenotype and molecular analysis of two mutant mouse strains with skeletal abnormalities, undulated (un) and Danforth's short tail (Sd). The role of the corresponding genes in skeletal development of these two mutants and the basis for their genetic interaction are discussed. [less ▲]

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See detailA role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae.
Koseki, H.; Wallin, J.; Wilting, J. et al

in Development (1993), 119(3), 649-60

The notochord plays an important role in the differentiation of the paraxial mesoderm and the neural tube. We have analyzed the role of the notochord in somite differentiation and subsequent formation of ... [more ▼]

The notochord plays an important role in the differentiation of the paraxial mesoderm and the neural tube. We have analyzed the role of the notochord in somite differentiation and subsequent formation of the vertebral column using a mouse mutant, Danforth's short-tail (Sd). In this mutant, the skeletal phenotype is most probably a result of degeneration and subsequent loss of the notochord. The Sd gene is known to interact with undulated (un), a sclerotome mutant. Double mutants between Sd and un alleles show an increase in the severity of the defects, mainly in the ventral parts of the vertebrae. We also show that part of the Sd phenotype is strikingly similar to that of the un alleles. As un is known to be caused by a mutation in the Pax-1 gene, we analyzed Pax-1 expression in Sd embryos. In Sd embryos, Pax-1 expression is reduced, providing a potential molecular basis for the genetic interaction observed. A complete loss of Pax-1 expression in morphologically intact mesenchyme was found in the lower thoracic-lumbar region, which is phenotypically very similar to the corresponding region in a Pax-1 null mutant, Undulated short-tail. The sclerotome developmental abnormalities in Sd coincide closely, both in time and space, with notochordal changes, as determined by whole-mount T antibody staining. These findings indicate that an intact notochord is necessary for normal Pax-1 expression in sclerotome cells, which is in turn required for the formation of the ventral parts of the vertebrae. The observed correlation among structural changes of the notochord, Pax-1 expression levels and skeletal phenotypes, suggests that Pax-1 might be an intrinsic mediator of notochordal signals during the dorsoventral specification of vertebrae. [less ▲]

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See detailAnalysis of the Pax-3 gene in the mouse mutant splotch.
Goulding, M.; Sterrer, S.; Fleming, J. et al

in Genomics (1993), 17(2), 355-63

In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax ... [more ▼]

In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp. [less ▲]

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