Mouse Genome Informatics
hm
    Kcne1pkr/Kcne1pkr
C57BL/10J-Kcne1pkr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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)
• 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
• no inner hair cells are seen
• no outer hair cells are seen, including the stereocilia normally found arrayed on the outer hair cells
• tectorial membrane is displaced
• scala media becomes reduced in size due to the collapse of Reissner's membrane
• thin semicircular canals
• the otoliths of the saccule and utricle appear displaced
• 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
• profoundly and bilaterally deaf
• VESPs are absent at the maximum stimulus intensity used

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

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