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

Symbol: Col9a1tm1Jae Name: collagen, type IX, alpha 1; targeted mutation 1, Rudolf Jaenisch MGI ID: MGI:2152964 Gene: Col9a1  Location: Chr1:24216691-24291765 bp, + strand  Genetic Position: Chr1, 9.95 cM Alliance: Col9a1tm1Jae page

Histology of knee joint articular cartilage of wild-type control and Col9a1tm1Jae/Col9a1tm1Jae mice Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:18628
Parent Cell Line:	D3 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin selection cassette was inserted into exon 8 in reverse transcriptional orientation relative to the gene. Northern blot analysis on RNA derived from E17.5 homozygous embryos demonstrated that no detectable transcript was produced from this allele. Western blot analysis on extracts of rib cage and vertebral column from homozygous mice confirmed that no stable encoded protein was present. (J:18628)

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

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	8 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 Col9a1 Mutation:	56 strains or lines available

Original:	J:18628 Fassler R, et al., Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci U S A. 1994 May 24;91(11):5070-4
All:	20 reference(s)