Phenotypes Associated with This Genotype

Genotype
MGI:3623789

• Allelic Composition: Kcne1^pkr/Kcne1^pkr
• Genetic Background: C57BL/10J-Kcne1^pkr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Inner ear cross-sections of 3 month old Kcne1^pkr/Kcne1^pkr and Kcne1^pkr/⁺

behavior/neurological

abnormal reflex ( 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

ataxia ( J:64772 )

impaired swimming ( J:64772 , J:116914 )

• 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)

head tossing ( J:64772 )

circling ( J:64772 , J:116914 )

• exhibit rapid bidirectional circling movements (J:64772)

hearing/vestibular/ear

abnormal inner ear morphology ( J:64772 )

collapsed Reissner membrane ( J:64772 )

• collapse of Reissner's membrane against the stria vascularis, the tectorial membrane, and the Organ of Corti

absent cochlear hair cells ( J:64772 )

absent cochlear inner hair cells ( J:64772 )

• no inner hair cells are seen

absent cochlear outer hair cells ( J:64772 )

• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells

absent outer hair cell stereocilia ( J:64772 )

abnormal tectorial membrane morphology ( J:64772 )

• tectorial membrane is displaced

small scala media ( J:64772 )

• scala media becomes reduced in size due to the collapse of Reissner's membrane

abnormal semicircular canal morphology ( J:64772 )

• thin semicircular canals

abnormal otolith morphology ( J:64772 )

• the otoliths of the saccule and utricle appear displaced

increased or absent threshold for auditory brainstem response ( 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

deafness ( J:64772 )

• profoundly and bilaterally deaf

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

nervous system

absent cochlear hair cells ( J:64772 )

absent cochlear inner hair cells ( J:64772 )

• no inner hair cells are seen

absent cochlear outer hair cells ( J:64772 )

• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells

absent outer hair cell stereocilia ( J:64772 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Jervell-Lange Nielsen syndrome		DOID:2842	OMIM:220400 OMIM:612347	J:64772