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

Symbol: Oattm1Dva Name: ornithine aminotransferase; targeted mutation 1, David Valle MGI ID: MGI:2150441 Gene: Oat  Location: Chr7:132159207-132178127 bp, - strand  Genetic Position: Chr7, 76.3 cM Alliance: Oattm1Dva page

Retinal histopathology of Oattm1Dva/Oattm1Dva mice Show the 4 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:29269
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin cassette was inserted into exon 3 (codon 40 of the 439 codon reading frame) of the gene. This insertion truncated the peptide 13 amino acid residues downstream of the cleavage site for the N-terminal mitochondrial targeting sequence. Southern blots showed production of a truncated protein in mutant mice, and functional assasys showed lack of enzymatic activity of the truncated protein. (J:29269)

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

In Structures Affected by this Mutation:

7 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 Oat Mutation:	18 strains or lines available

Original:	J:29269 Wang T, et al., Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration. Nat Genet. 1995 Oct;11(2):185-90
All:	6 reference(s)