Aspa^deaf14
Chemically induced Allele Detail

Summary

• Symbol: Aspa^deaf14
• Name: aspartoacylase; deaf 14
• MGI ID: MGI:5787576
• Gene: Aspa Location: Chr11:73195813-73217677 bp, - strand Genetic Position: Chr11, 45.28 cM, cytoband B4
• Alliance: Aspa^deaf14 page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A point mutation that results in the amino acid substitution of a termination codon for tyrosine at position 172 (Y172X). Western blot analysis confirmed the absence of protein expression in the brain. (J:211825)
• Inheritance: Recessive

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Aspa Mutation: 26 strains or lines available

References

• Original: J:211825 Carpinelli MR, et al., A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination. Dis Model Mech. 2014 Jun;7(6):649-57
• All: 1 reference(s)