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Col2a1Rgsc856
Chemically induced Allele Detail
Summary
Symbol: Col2a1Rgsc856
Name: collagen, type II, alpha 1; RIKEN Genomic Sciences Center (GSC), 856
MGI ID: MGI:3808759
Synonyms: M100856
Gene: Col2a1  Location: Chr15:97873483-97902525 bp, - strand  Genetic Position: Chr15, 53.97 cM
Alliance: Col2a1Rgsc856 page
Skeletal abnormalities in Col2a1Rgsc856/Col2a1+ and Col2a1Rgsc856/Col2a1Rgsc856 mice at E18.5

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6JJcl
Project Collection: RIKEN GSC ENU Project
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU induced an A to C missense mutation at position 4406 which is predicted to cause an aspartic acid to alanine substitution at position 1469. This mutation is located in the coding region of the C-propeptide. (J:171906)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 14 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Col2a1 Mutation:  68 strains or lines available
References
Original:  J:133634 RIKEN BioResource Center/RIKEN Genomic Sciences Center, A Large Scale Mutagenesis Program in RIKEN GSC. PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/). 2008;
All:  2 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
05/07/2024
MGI 6.23
The Jackson Laboratory