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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pjvktm1Ugds
targeted mutation 1, Unite de Genetique des Deficits Sensoriels
MGI:3654320
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pjvktm1Ugds/Pjvktm1Ugds involves: 129S2/SvPas * BALB/c * C57BL/6 MGI:3654321
cx2
 		Gsdmetm1Ant/Gsdmetm1Ant
Pjvktm1Ugds/Pjvktm1Ugds 		involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6 * CBA/Ca MGI:3654322


Genotype
MGI:3654321
hm1
Allelic
Composition		 Pjvktm1Ugds/Pjvktm1Ugds
Genetic
Background		 involves: 129S2/SvPas * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pjvktm1Ugds mutation (0 available); any Pjvk mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:111260 )
N
• no balance defects are seen, indicating that the vestibular system is functioning normally
abnormal auditory brainstem response waveform shape ( J:111260 )
• increased thresholds are associated with abnormal shapes and reduced amplitudes of all 4 the auditory brainstem response waves
increased or absent threshold for auditory brainstem response ( J:111260 )
• at P30 thresholds are increased at high frequencies (32-40 kHz) and this hearing loss is stable in mice up to 8 months of age (non-progressive)
• in 2 of 18 thresholds are also increased in the mid frequency range and in 2 of 18 thresholds are increased at all frequencies
• however, cochlear morphology is similar to wild-type

nervous system
nervous system phenotype ( J:111260 )
N
• no brainstem morphological abnormalities are detected

behavior/neurological
behavior/neurological phenotype ( J:111260 )
N
• mice behaved similar to controls in tests for motor coordination and for perception of touch and pain

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 59 DOID:0110511 OMIM:610220
 J:111260




Genotype
MGI:3654322
cx2
Allelic
Composition		 Gsdmetm1Ant/Gsdmetm1Ant
Pjvktm1Ugds/Pjvktm1Ugds
Genetic
Background		 involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6 * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gsdmetm1Ant mutation (0 available); any Gsdme mutation (38 available)
Pjvktm1Ugds mutation (0 available); any Pjvk mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
increased or absent threshold for auditory brainstem response ( J:111260 )
• hearing loss is identical to Dfnb59 homozygous mice that are wild-type for Dfna5h, indicating that Dfna5h mutation does not modify the phenotype for Dfnb59 mutations




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory