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| Nomenclature |
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Symbol:
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Col2a1sedc
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Name:
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collagen, type II, alpha 1;
spondyloepiphyseal dysplasia congenita
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MGI ID: |
MGI:2676325 |
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Synonyms: |
Col2a1sed |
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Gene:
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Col2a1
Location:
Chr15:97975602-98004695 bp, - strand
Genetic Position: Chr15,
53.97 cM
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Mutation
origin |
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Strain of Origin:
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Mixed stock
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: Sequence analysis identified a point mutation in exon 48 that changed codon 1417 from CGC to TGC, resulting in substitution of cysteine for arginine (Arg1417Cys). (J:85735)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:85735
Donahue LR et al.,
"A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis."
J Bone Miner Res 2003 Sep;18(9):1612-21
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All: |
2 reference(s)
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Analysis Tools
