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Uchl1gad
Spontaneous Allele Detail
Nomenclature
Symbol: Uchl1gad
Name: ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy
MGI ID: MGI:1856882
Synonyms: gad
Gene: Uchl1  Location: Chr5:66676121-66687234 bp, + strand  Genetic Position: Chr5, 35.95 cM
Mutation
origin
Strain of Origin:  (CBA/Nga x RFM/Nga)F2
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation in the gad mouse is an in-frame deletion including exons 7 and 8. A truncated protein is encoded that is lacking a segment of 42 amino acids containing a catalytic residue. (J:57318, J:97670)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 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 Uchl1 Mutation:  10 strains or lines available
References
Original:  J:30954 Yamazaki K, et al., Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. Proc Soc Exp Biol Med. 1988 Feb;187(2):209-15
All:  33 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/13/2020
MGI 6.16
The Jackson Laboratory