Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Col5a2tm1Rmz
Name:	collagen, type V, alpha 2; targeted mutation 1, Francesco Ramierez
MGI ID:	MGI:2152946
Synonyms:	pN
Gene:	Col5a2  Location: Chr1:45413491-45542442 bp, - strand  Genetic Position: Chr1, 23.69 cM, cytoband C1
Alliance:	Col5a2tm1Rmz page

Germline Transmission:	Earliest citation of germline transmission: J:22301
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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:	65 strains or lines available

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)