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Ass1fold
Spontaneous Allele Detail
Nomenclature
Symbol: Ass1fold
Name: argininosuccinate synthetase 1; follicular dystrophy
MGI ID: MGI:3696404
Gene: Ass1  Location: Chr2:31470207-31520672 bp, + strand  Genetic Position: Chr2, 21.81 cM
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.

Mutation
origin
Strain of Origin:  P/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA C to T transition in exon 15, results in a threonine for 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
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:  54 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory