B6.129-Ptprq^tm2Bow/J

Stock number: 004833
Product name: Ptprq-CAT-KO
Research areas: Neurobiology Research, Sensorineural Research

Description

These Ptprq knock-out mice have abnormal development of the organ of Corti and exhibit deafness.

Detailed description

Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunofluorescence labeling analysis of the inner ear. Homozygotes do not respond to the 20kHz toneburst of a hearing test at 3 months of age. Although embryonic development of the inner ear is normal, newborns exhibit disorganized and defective hair cell bundles. Histological analysis reveals an absence of hair cells in the organ of Corti and some animals are missing the organ of Corti completely. Inner hair cells have missing or defective stereocilia. This mutant mouse strain may be useful in studies related to deafness.

Development

A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt 1061 bp sequence containing the 2 exons encoding the catalytic domain and flanking sequence. The construct was electroporated into 129-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts.

Allele

Symbol: Ptprq^tm2Bow
Name: targeted mutation 2, Daniel F Bowen-Pope
MGI accession ID: MGI:2679316
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Ptprq-CAT-KO
Marker symbol: Ptprq
Marker name: protein tyrosine phosphatase, receptor type, Q
Marker synonyms: DFNA73; DFNB84; DFNB84A; PTPGMC1; rPTP-GMC1; R-PTP-Q
Chromosome: 10
Strain of origin: 129/Sv
Molecular note: A 1061 bp fragment encompassing 2 exons, encoding a portion of the cytoplasmic domain including the catalytic site, was replaced with a neomycin selection cassette inserted by homologous recombination. While, mutant transcript lacking the targeted fragment was detected by RT-PCR analysis of cochlear RNA obtained from homozygous mutant mice, protein was undetected by immunostaining. Absence of protein was further verified using antisera to the C-terminal.