Col2a1<Dmm> Radiation induced Allele Detail MGI Mouse (MGI:1857275)

Col2a1^Dmm
Radiation induced Allele Detail

Summary

Symbol:	Col2a1^Dmm
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:	Col2a1^Dmm page

Mutation
origin

Strain of Origin:

(C3H x 101)F1

Mutation
description

Allele Type:		Radiation induced
Mutation:		Intragenic deletion
		Mutation details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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:	69 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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