Ass1^fold
Spontaneous Allele Detail

Summary

• Symbol: Ass1^fold
• 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: Ass1^fold page

Small body size, lack of hair, and wrinkled skin in one week old Ass1^fold/Ass1^fold(right) mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: P/J

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• 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: 58 strains or lines available

References

• 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)