| First Author | Johnson KR | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:238912 |
| Mgi Id | MGI:5824537 | Citation | Johnson KR, et al. (2017) nmf318 is a mutation in Clic5. MGI Direct Data Submission |
| abstractText | Using a mapping cross to CAST/EiJ we refined the mapping interval for nmf318 to between D17Mit105 and D17Mit50, identified Clic5 as the best candidate gene, and performed an allele test with Clic5<jbg>. Multiple litters from five individual matings of +/nmf318 females with +/Clic5<jbg> males produced a total of 77 progeny, 17 with a mutant phenotype, providing positive evidence for allelism. Sequence comparisons of genomic DNA between three nmf318/nmf318 mutants and two +/+ wild-type controls revealed a single nucleotide substitution c.680T>C (from ATG start, NM-172621) in exon 6 of Clic5, which is predicted to change a highly conserved phenylalanine residue at amino acid 227 to serine (NP_766209). ABR analysis of 6 mutant mice tested at 32 days of age showed 35-50 dB threshold elevations compared with controls (severe hearing impairment). No ABR was detected in 9 mutants tested at 70 days of age, even when subjected to the maximum 100 dB stimulus (completely deaf). Scanning electron microscopy of mutant cochleae at 30 days of age revealed hair cell bundle abnormalities, and cochlear cross-sections at 6 weeks of age showed degeneration of the organ of Corti. The phenotype of nmf318 is essentially the same as that of Clic5<jbg>. |
