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Col1a1em1Nju
Endonuclease-mediated Allele Detail
Summary
Symbol: Col1a1em1Nju
Name: collagen, type I, alpha 1; endonuclease-mediated mutation 1, Model Animal Research Center of Nanjing University
MGI ID: MGI:7863770
Synonyms: col1a1-365
Gene: Col1a1  Location: Chr11:94827050-94843868 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Alliance: Col1a1em1Nju page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology generated a 1029 bp deletion encompassing exons 2 to 5, resulting in a frameshift at the 26th amino acid and a stop codon at the 36th amino acid. (J:358220)
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: 4 anatomical structure(s)
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 Col1a1 Mutation:  166 strains or lines available
References
Original:  J:358220 Liu Y, et al., A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I. Bone. 2019 Oct;127:646-655
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
12/17/2024
MGI 6.24
The Jackson Laboratory