Mice homozygous for the Lhfpl5hscy mutation circle rapidly, shake their heads from side to side, fail to swim, and are congenitally deaf. Although hair cells appear normal at birth, they degenerate. At 4 months of age, degeneration of the organ of Corti is also found, more pronounced in the basal region of the cochlea than the apex, with loss of inner and outer hair cells and decreased spiral ganglia (Longo-Guess et al., 2005).
The hurry scurry mutation arose spontaneously in 1992 on the B6.MOR-Gusba background in the laboratory of Dr. Gordon Watson at The Jackson Laboratory and was maintained via sibling mating for several generations before being backcrossed three times to C57BL/6, which removed the Gusba allele. This strain was subsequently maintained by sibling mating of primarily heterozygous females with homozygous males. In 2005 this strain reached generation N3F15.
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Lhfpl5, lipoma HMGIC fusion partner-like 5|
|Strain of Origin||B6.MOR-Gusba|
|Molecular Note||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.|