Napa^hyh
Spontaneous Allele Detail

Summary

• Symbol: Napa^hyh
• Name: N-ethylmaleimide sensitive fusion protein attachment protein alpha; hydrocephaly with hop gait
• MGI ID: MGI:1856610
• Synonyms: hyh
• Gene: Napa Location: Chr7:15832383-15851900 bp, + strand Genetic Position: Chr7, 8.74 cM
• Alliance: Napa^hyh page

Mutation origin

• Strain of Origin: C57BL/10J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The G-to-A transition identified in exon 4 results in the substitution of the conserved methionine at amino acid residue 105 with an isoleucine (p.M105I). Transcript expression levels were normal as determined by Northern blot analysis. Presence of the mutation was confirmed by RT-PCR sequence analysis of mRNA from brain tissue. Western blot analysis indicated that the mutant protein is about 40% less abundant in homozygous mutant mice than is the normal protein in wild-type mice. (J:88183, J:156559)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	5 assay results
In Structures Affected by this Mutation:	13 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 Napa Mutation: 16 strains or lines available

References

• Original: J:14015 Lane PW, Hydrocephaly with hop gait (hyh). Mouse News Lett. 1985;73:18
• All: 21 reference(s)