B6.129-Lhfpl5^tm1Kjn/Kjn

Stock number: 005434

Description

This targeted mutation is useful in the study of cochlear stereocilia degeneration and resultant deafness.

Detailed description

Homozygotes have degeneration of cochlear stereocilia. They first exhibit a slight behavioral abnormality at 11 days of age and circling and head tossing are displayed by 3 weeks of age. These homozygotes are profoundly deaf by 34 days of age, failing to respond to 100 dB SPL in auditory brainstem response assessments. Heterozygotes at 34 days of age display normal hearing as assessed by ABR. Scanning electron micrographs of the organ of Corti from a homozygote at approximately 1 month of age shows disorganized outer hair cell bundles, many degenerated stereocilia, and at the basal region of the cochlea there are patches where hair cells are entirely missing.

Development

This targeted mutation has exons 1 and 2 replaced with a lacZ reporter cassette. This was generated in R1 ES cells, the chimera was bred to C57BL/6J, and this mutation was then repeatedly backcrossed onto C57BL/6J until it reached backcross generation N10. In 2012 sperm was cryopreserved from homozygous males at generation N10F2.

Allele

Symbol: Lhfpl5^tm1Kjn
Name: targeted mutation 1, Kenneth R Johnson
MGI accession ID: MGI:3718054
Generation method: Targeted
Attributes: Reporter; Null/Knockout
Marker symbol: Lhfpl5
Marker name: lipoma HMGIC fusion partner-like 5
Marker synonyms: 9330179O15Rik; DFNB67; dJ510O8.8; LOC328789; TMHS
Chromosome: 17
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Expressed genes: lacZ,beta-galactosidase,E. coli
Molecular note: Exons 1 and 2 were replaced with a lacZ reporter and neomycin resistance cassette.