Lhfpl5^hscy
Spontaneous Allele Detail

Summary

• Symbol: Lhfpl5^hscy
• Name: lipoma HMGIC fusion partner-like 5; hurry-scurry
• MGI ID: MGI:3055797
• Gene: Lhfpl5 Location: Chr17:28794330-28802567 bp, + strand Genetic Position: Chr17, 14.77 cM, cytoband B1
• Alliance: Lhfpl5^hscy page

Cochlear pathology of the Lhfpl5^hscy/Lhfpl5^hscy mouse

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B6.MOR-Gusb^a

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation arose at The Jackson Laboratory. The mutation is a G-to-T transversion in exon 2 that results in a nonconservative amino acid change from cysteine to phenylalanine at amino acid position 161 of the encoded protein (p.C161F). Northern blot analysis demonstrated that a normal sized transcript was expressed from this mutant allele. Histological immunofluorescence analysis confirmed the absence of protein expression in newborn homozygous mice that is normally found in the inner and outer hair cells of the inner ear. (J:98396)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	19 assay results
In Structures Affected by this Mutation:	2 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 Lhfpl5 Mutation: 17 strains or lines available

References

• Original: J:98396 Longo-Guess CM, et al., A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Proc Natl Acad Sci U S A. 2005 May 31;102(22):7894-9
• All: 2 reference(s)