Uchl1^gad-J
Spontaneous Allele Detail

Summary

• Symbol: Uchl1^gad-J
• Name: ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy Jackson
• MGI ID: MGI:3832097
• Synonyms: Uchl1^nm3419, Uch-L1^nm3419
• Gene: Uchl1 Location: Chr5:66833464-66844577 bp, + strand Genetic Position: Chr5, 35.95 cM
• Alliance: Uchl1^gad-J page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 795 base-pair intragenic deletion resulted in the removal of the final 24 base-pairs of exon 6 and the first 771 base-pairs of intron 6. As a result of the mutation, 99 base-pairs of intron 6 are included in the mRNA and a cryptic splice donor within intron 6 is used to splice the mRNA to exon 7. The included intron 6 sequence encoded 13 novel amino acids before a premature termination codon was encountered, resulting in the loss of the final 78 amino acids of the protein. Immunoblot analysis of brain extracts failed to detect any protein. (J:142436)

Expression

In Structures Affected by this Mutation:

1 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:142436 Walters BJ, et al., Differential effects of Usp14 and Uch-L1 on the ubiquitin proteasome system and synaptic activity. Mol Cell Neurosci. 2008 Dec;39(4):539-48
• All: 6 reference(s)