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Table 1 Summary of the 25 lines found to have a spontaneous mutation affecting hearing

From: Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

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 303 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 36.7 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 -
  1. This table summarises the 25 lines in which hearing phenotypes were observed which did not segregate with the targeted allele. While some of the targeted genes have been associated with a hearing phenotype (eg Sesn3 homozygotes have abnormal waveforms [11], and ISG20 has been associated with human hearing loss via genome-wide association studies (GWAS) [13, 14]), the targeted alleles did not segregate with the phenotypes reported in this paper and are not linked to the observed hearing loss described here
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BMC Biology

ISSN: 1741-7007

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