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Col5a2tm1Rmz
Targeted Allele Detail
Nomenclature
Symbol: Col5a2tm1Rmz
Name: collagen, type V, alpha 2; targeted mutation 1, Francesco Ramierez
MGI ID: MGI:2152946
Synonyms: pN
Gene: Col5a2  Location: Chr1:45374331-45503282 bp, - strand  Genetic Position: Chr1, 23.69 cM, cytoband C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:22301
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced a genomic fragment containing exon 6. RT-PCR analysis revelaled that homozygous mice produce in-frame transcripts from this allele lacking exon 6 sequence. Western blot analysis identified a protein produced from this allele that presumably lacks the N-telopeptide segment of the alpha2(V) chain. (J:22301)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 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 Col5a2 Mutation:  0 strains or lines available
References
Original:  J:22301 Andrikopoulos K, et al., Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nat Genet. 1995 Jan;9(1):31-6
All:  4 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
05/19/2020
MGI 6.15
The Jackson Laboratory