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

Symbol: Ass1fold Name: argininosuccinate synthetase 1; follicular dystrophy MGI ID: MGI:3696404 Gene: Ass1  Location: Chr2:31360282-31410682 bp, + strand  Genetic Position: Chr2, 21.81 cM Alliance: Ass1fold page

Small body size, lack of hair, and wrinkled skin in one week old Ass1fold/Ass1fold(right) mice Show the 3 phenotype image(s) involving this allele.

Strain of Origin:

P/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A C to T transition in exon 15, results in a threonine to isoleucine (T389I) substitution, producing a hypomoph. Measurement of RNA by quantitative real-time PCR, and protein by Western Blot and Immunohistochemistry showed no changes in level compared to wild-type. (J:165341)

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

In Structures Affected by this Mutation:

11 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ass1 Mutation:	56 strains or lines available

Original:	J:117339 Harris BS, et al., Follicular dystrophy: a new skin and hair mutation on mouse Chromosome 2. MGI Direct Data Submission. 2007;
All:	3 reference(s)