Table 7.
List of available mouse models with mutations corresponding to human variants in common deafness-associated genes.
| Gene | Species1 | Accession2 | Genotype3 | Mouse symbol1 | Reference |
|---|---|---|---|---|---|
| GJB2 | Mouse (Mus musculus) | 3056479 | Gjb2: c.355G>T (p.Glu119Ter) | Gjb2E119stop | [154] |
| Human (Homo sapiens) | 552025 | GJB2: c.355G>T (p.Glu119Ter) | N/A | ||
| SLC26A4 | Mouse (Mus musculus) | 5806435 | Slc26a4: c.2118T >A (p.Cys706Ter) | Slc26a4m2Btlr | MGI4, 2016 |
| Human (Homo sapiens) | 544449 | SLC26A4: c.2118C>A (p.Cys706Ter) | N/A | ||
| SLC26A4 | Mouse (Mus musculus) | 5529273 | Slc26a4: c.2168A>G (p.His723Arg) | Slc26a4tm2.1Dontu | [155] |
| Human (Homo sapiens) | 19864 | SLC26A4: c.2168A>G (p.His723Arg) | [156] | ||
| TMC1 | Mouse (Mus musculus) | 2177263 | Tmc1: c.1235T>A (p.Met412Lys) | Tmc1Mhdabth | [45] |
| Human (Homo sapiens) | 181568 | TMC1: c.1253T>A (p.Met418Lys) | [16, 19] | ||
| CDH23 | Mouse (Mus musculus) | 1857520 | Cdh23: c.8803C>T (p.Arg2935Ter) | Cdh23v-5J | MGI4, 1998 |
| Human (Homo sapiens) | 611734 | CDH23: c.8803C>T (p.Arg2935Ter) | N/A | ||
1
Information of mice and human variants was collected from International Mouse Strain Resource (IMSR) (findmice.org/index) [157] and ClinVar (ncbi.nlm.nih.gov/clinvar) [22], respectively.
2
Single-nucleotide variants in mice and humans are represented by Allele ID from ClinVar and MGI ID from IMSR, respectively.
3
Orthologous sequences of human and mouse were analyzed using Ensembl variation resources (useast.ensembl.org) [158].
4
MGI direct data submission.
N/A: not available.