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Col1a1Aga2
Chemically induced Allele Detail
Nomenclature
Symbol: Col1a1Aga2
Name: collagen, type I, alpha 1; abnormal gait 2
MGI ID: MGI:3769585
Synonyms: Aga2, Aga2mild, Aga2severe, Col1a1M1Tliss
Gene: Col1a1  Location: Chr11:94936224-94953042 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Col1a1Aga2/Col1a+ mice display skeletal and growth abnormalities

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation was identified in the Munich ENU dominant mutagenesis screen. A T to A transverion was identified within intron 50, generating a novel 3' splice acceptor site. The mutation results in a 16 base expansion of the transcript. (J:129569)
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: 24 anatomical structures
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 Col1a1 Mutation:  107 strains or lines available
References
Original:  J:129569 Lisse TS, et al., ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet. 2008 Feb;4(2):e7
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory