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| Nomenclature |
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Symbol:
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Ccd
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Name:
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cleidocranial dysplasia
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MGI ID: |
MGI:1861187 |
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Synonyms: |
320 |
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Gene:
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Ccd
Location:
unknown
Genetic Position: Chr17,
Syntenic
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Intergenic deletion |
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Mutation details: Genetic analysis of Ccd mice showed a 2 cM deletion on chromosome 17 in an area of synteny to human 6p. The deletion is flanked on one side by the Tcte1 gene, involves Runx1, but extends further proximally, also deleting Mut. (J:40784)
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Inheritance: | |
Semidominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ccd Mutation:
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0 strains or lines available |
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Notes |
Induced by gamma irradiation in a 101 strain male. Heterozygotes show striking homology to cleidocranial dysplasia, a skeletal disorder in man. The mutation is fully penetrant in heterozygotes. It causes partial or complete failure of ossification of clavicles, symphysis pubis, and cranial fontanelles. This mutation is lethal in homozygotes (J:14006).
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| References |
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Original: |
J:14006
Selby P et al.,
"Cleidocranial dysplasia, Ccd."
Mouse News Lett 1985;72():123
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All: |
6 reference(s)
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Analysis Tools
