About   Help   FAQ
Col1a1M1Jrt
Chemically induced Allele Detail
Nomenclature
Symbol: Col1a1M1Jrt
Name: collagen, type I, alpha 1; mutation 1, Janet Rossant
MGI ID: MGI:5620941
Synonyms: Col1a1Jrt
Gene: Col1a1  Location: Chr11:94936224-94953042 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to C point mutation in the exon 9 splice donor site that leads to skipping of exon 9 and the 18 amino acids coded within. (J:216423)
Inheritance:    Dominant
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 16 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:  121 strains or lines available
References
Original:  J:216423 Chen F, et al., First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome. J Bone Miner Res. 2014 Jun;29(6):1412-23
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/05/2019
MGI 6.14
The Jackson Laboratory