Uchl1^gad
Spontaneous Allele Detail

Summary

• Symbol: Uchl1^gad
• Name: ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy
• MGI ID: MGI:1856882
• Synonyms: gad
• Gene: Uchl1 Location: Chr5:66833464-66844577 bp, + strand Genetic Position: Chr5, 35.95 cM
• Alliance: Uchl1^gad page

Mutation origin

• Strain of Origin: (CBA/Nga x RFM/Nga)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The 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

Expression

In Structures Affected by this Mutation:

7 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 Uchl1 Mutation: 29 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: 34 reference(s)