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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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Gene:
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Col2a1
Location:
Chr15:97806033-97835126 bp, - strand
Genetic Position: Chr15,
54.5 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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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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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
Disease Model |
Col2a1sedc/Col2a1sedc |
involves: C57BL/6J |
behavior/neurological digestive/alimentary system growth/size hearing/vestibular/ear vision/eye nervous system |
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Disease
models
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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: |
1 reference(s)
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