Allele name | Allele symbol | Targeted gene | Line | Phenotype | Mutation | Affected gene(s) | MGI Allele symbol | MGI ID | Mutation type | Mutation effect | Inheri-tance | Parental ES Cell line | Mutation present in parental ES cell line | Mutation type compared to other reported mutant alleles in gene |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Stone deaf | stdf | Mms22l | MAKN | Rapidly progressive severe hearing loss | g.9:20967665G > C | S1pr2 | S1pr2 < stdf >  | MGI:5423977 | Missense | T289R | Recessive | JM8.N4 | No | Similar |
Tikho | Tkh | Rasal2 | MEBJ | Progressive hearing loss affecting higher frequencies first | g.6:113759212G > C | Atp2b2 | Atp2b2 < Tkh >  | MGI:6470863 | Missense | R969G | Semi- dominant | JM8A3.N1 | No | Hypomorph |
Twitch | ttch | Arpc3 | MDLY | Complete deafness with vestibular dysfunction | g.16:18584128C > T | Tbx1 | Tbx1 < ttch >  | MGI:6470864 | Missense | D212N | Recessive | JM8A3.N1 | No | Hypomorph |
Jiggle | jigl | Ccdc122 | MEWY | Complete deafness with vestibular dysfunction | Deletion between g.10:74,614,441 and g.10:74,635,149 | Pcdh15 | Pcdh15 < jigl >  | MGI:6470865 | Deletion, with potential insertion | Loss of four exons towards 3' end of transcript | Recessive | JM8A1.N3 | No | Similar |
Rhythm | rthm | Isg20 | MFFD | Complete deafness with vestibular dysfunction | g.18:57437258_57740507del | Ctxn3, Ccdc192 and 6 noncoding genes | Del(18Ctxn3-Ccdc192)1Kcl | MGI:6470868 | Deletion | 303Â kb deletion | Recessive | JM8A3.N1 | No | N/A |
Rhyme | rhme | Rhox13 | MEEK | Progressive hearing loss affecting higher frequencies first | g.10:20116294_20153024del | Map3k5, Map7 | Del(10Map3k5-Map7)2Kcl | MGI:6470869 | Deletion | 36.7Â kb deletion affecting last 9 exons of Map3k5 and first exon of Map7 | Recessive | JM8A3.N1 | No | Male sterility of Map7 mutants is the same; hearing loss has not been reported |
Spindizzy | spdz | Slc35f2 | MHER | Complete deafness with vestibular dysfunction | Disruption between g.4:152,122,586 and g.4:152,123,017 | Espn | Espn < spdz >  | MGI:6470866 | Deletion, with potential insertion or other disruption | Disruption in intron | Recessive | JM8A3.N1 | No | Similar |
Low frequency | lowf | Mab21l4 | MCBX | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.F6 | No | Similar |
Low frequency | lowf | Traf3ip3 | MATH | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.N4 | No | Similar |
Low frequency | lowf | Mad2l2 | MBYL | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.F6 | No | Similar |
Low frequency | lowf | Kazn | MCFF | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.N4 | No | Similar |
Low frequency | lowf | Sesn3 | MCKG | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.N4 | No | Similar |
Low frequency | lowf | Pabpc1l | MCRU | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8A3.N1 | No | Similar |
Low frequency | lowf | Kcne2 | MCSJ | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8.N4 | No | Similar |
Low frequency | lowf | Ptpn2 | MCTP | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | JM8A3.N1 | No | Similar |
Low frequency | lowf | Tnfaip1 | MDEU | Low frequency hearing loss | g.9:110455454C > A | Klhl18 | Klhl18 < lowf >  | MGI:6470867 | Missense | V55F | Recessive | Unknown (imported line) | Unknown | - |
Variable thresholds | vthr | Dusp3 | MBVF | Variable moderate to severe hearing loss across all frequencies | Unknown | Unknown | - | - | - | - | - | JM8.N19 | Unknown | - |
- | Un- known | Pdzd3 | METD | Low frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8A1.N3 | Unknown | - |
- | Un- known | Trim66 | MCVL | Low frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8.N4 | Unknown | - |
- | Un- known | Tpi1 | MCFC | High-frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8.N4 | Unknown | - |
- | Un- known | Aff3 | MCND | High-frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8.N4 | Unknown | - |
- | Un- known | Wdtc1 | MFYJ | High-frequency hearing loss, only seen in females | Unknown | Unknown | - | - | - | - | - | JM8.N4 | Unknown | - |
- | Un- known | Ddah1 | MGKQ | High-frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8A3.N1.C2 | Unknown | - |
- | Un- known | Mir32 | MOAA | High-frequency hearing loss | Unknown | Unknown | - | - | - | - | - | JM8A3 | Unknown | - |
- | Un- known | Sfxn3 | MUBE | Severe & profound hearing loss | Unknown | Unknown | - | - | - | - | - | JM8A3.N1 | Unknown | - |