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Phenotypes Associated with This Genotype
Genotype
MGI:3623789
Allelic
Composition
Kcne1pkr/Kcne1pkr
Genetic
Background
C57BL/10J-Kcne1pkr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcne1pkr mutation (0 available); any Kcne1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Inner ear cross-sections of 3 month old Kcne1pkr/Kcne1pkr and Kcne1pkr/+

behavior/neurological
• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior (J:116914)
• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior (J:116914)
• unable to swim (J:64772)
• unable to swim (J:64772)
• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface (J:116914)
• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface (J:116914)
• exhibit rapid bidirectional circling movements (J:64772)
• exhibit rapid bidirectional circling movements (J:64772)

hearing/vestibular/ear
• collapse of Reissner's membrane against the stria vascularis, the tectorial membrane, and the Organ of Corti (J:64772)
• collapse of Reissner's membrane against the stria vascularis, the tectorial membrane, and the Organ of Corti (J:64772)
• no inner hair cells are seen (J:64772)
• no inner hair cells are seen (J:64772)
• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells (J:64772)
• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells (J:64772)
• tectorial membrane is displaced (J:64772)
• tectorial membrane is displaced (J:64772)
• scala media becomes reduced in size due to the collapse of Reissner's membrane (J:64772)
• scala media becomes reduced in size due to the collapse of Reissner's membrane (J:64772)
• thin semicircular canals (J:64772)
• thin semicircular canals (J:64772)
• the otoliths of the saccule and utricle appear displaced (J:64772)
• the otoliths of the saccule and utricle appear displaced (J:64772)
• auditory brainstem recordings show that mutants are unable to hear even at the upper limit of the test at 99 dB at 4 weeks of age (J:64772)
• auditory brainstem recordings show that mutants are unable to hear even at the upper limit of the test at 99 dB at 4 weeks of age (J:64772)
• profoundly and bilaterally deaf (J:64772)
• profoundly and bilaterally deaf (J:64772)
• VESPs are absent at the maximum stimulus intensity used (J:116914)
• VESPs are absent at the maximum stimulus intensity used (J:116914)

nervous system
• no inner hair cells are seen (J:64772)
• no inner hair cells are seen (J:64772)
• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells (J:64772)
• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells (J:64772)

Mouse Models of Human Disease
OMIM ID Ref(s)
Jervell and Lange-Nielsen Syndrome 2; JLNS2 612347 J:64772


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory