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Col1a1M1Jrt
Chemically induced Allele Detail
Summary
Symbol: Col1a1M1Jrt
Name: collagen, type I, alpha 1; mutation 1, Janet Rossant
MGI ID: MGI:5620941
Synonyms: Col1a1Jrt
Gene: Col1a1  Location: Chr11:94827050-94843868 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Alliance: Col1a1M1Jrt page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis resulted in a T to C transition within the splice donor of Exon 9. Sequencing revealed that the mutation resulted in the skipping of Exon 9 predicting an 18 amino acid deletion in the main triple helical domain. (J:216423)
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 Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 12 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 Col1a1 Mutation:  161 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:  5 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
06/12/2024
MGI 6.13
The Jackson Laboratory