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Col6a1tm1Sngi
Targeted Allele Detail
Nomenclature
Symbol: Col6a1tm1Sngi
Name: collagen, type VI, alpha 1; targeted mutation 1, Satoru Noguchi
MGI ID: MGI:6401814
Synonyms: Col6a1GT
Gene: Col6a1  Location: Chr10:76544626-76561878 bp, - strand  Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:278926
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutations:    Insertion, Single point mutation
 
Mutation detailsAn A to G change at position 847 resulting in a glycine to arginine substitution at amino acid 283 was inserted in exon 9 and a FRT and loxP-flanked neomycin selection cassette was inserted in intron 9. Mice show a reduction of mRNA levels and only aberrant spliced products from exon 9 to the neo cassette, suggesting a frame-shift after exon 9. (J:278926)
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: 5 anatomical structures
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 Col6a1 Mutation:  42 strains or lines available
References
Original:  J:278926 Noguchi S, et al., Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. EBioMedicine. 2017 Feb;15:193-202
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
05/10/2022
MGI 6.19
The Jackson Laboratory