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Col2a1Dmm
Radiation induced Allele Detail
Summary
Symbol: Col2a1Dmm
Name: collagen, type II, alpha 1; disproportionate micromelia
MGI ID: MGI:1857275
Gene: Col2a1  Location: Chr15:97873483-97902525 bp, - strand  Genetic Position: Chr15, 53.97 cM
Alliance: Col2a1Dmm page
Mutation
origin
Strain of Origin:  (C3H x 101)F1
Mutation
description
Allele Type:    Radiation induced
Mutation:    Intragenic deletion
 
Mutation detailsThis mutation is three-nucleotide deletion in the region encoding the C- propeptide globular domain. The deletion leads to the substitution of one amino acid, Asn, in the mutant for two amino acids, Lys and Thr, in the wild-type. (J:37522)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Col2a1 Mutation:  68 strains or lines available
References
Original:  J:6582 Brown KS, et al., Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J Embryol Exp Morphol. 1981 Apr;62(1):165-82
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory