Mouse Genome Informatics
hm
    Clrn1tm1.1Kuna/Clrn1tm1.1Kuna
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
N
• between P21 and P30, vestibular hair cell morphology is normal (J:150215)
• hair cell ribbon synapses are normal (J:186316)
• by P30, outer and inner hair cells are missing unlike in wild-type mice
• by P21, outer hair cells are lost from the cochlea unlike wild-type mice
• by P30 outer and inner hair cells are missing unlike in wild-type mice
• disrupted integrity that is more severe than in Clrn1tm2.1Kuna homozygotes
• however, tip links are normal
• outer hair cell stereociliary bundles are disorganized and circular clusters of abnormal stereocilia are observed
• there is little progression in the severity of stereocilia defects between P2 and P15
• in the basal turn of the cochlea by P30
• by P30, the organ of Corti collapses
• cochlear hair cells exhibit reduced FM1-43 loading compared with wild-type cells
• cochlear hair cells exhibit reduced amplitudes and sensitivity of transduction currents compared with wild-type cells
• at P18 at 2, 4 and 8 kHz
• vestibular hair cells exhibit reduced amplitudes and sensitivity of transduction currents compared with wild-type cells
• at P14 and P20, peak latencies are decreased compared to controls
• at P21, response peak latencies are prolonged compared to controls
• at P14 and P20, in brainstem auditory evoked potential thresholds are elevated compared to controls
• at P21, 30% mice exhibit an increase in brainstem auditory evoked potential threshold compared with wild-type mice
• mice exhibit progressive hearing loss
• at P30, hearing function is absent
• by P30
• at P1, linear vestibular evoked potential response peak latencies are prolonged compared to in wild-type mice
• between P21 and P30, the threshold of vestibular evoked potential is higher in some mice than in wild-type mice
• between P21 and P30, mice exhibit abnormalities in linear vestibular evoked potential response peak latencies compared with wild-type mice

behavior/neurological
• between P21 and P90, mice are less stable in the water and tend to roll from one side to the other compared with wild-type mice
• between p21 to P40, mice exhibit mild and variable head bobbing unlike wild-type mice

vision/eye
N
• mice exhibit normal photoreceptor and neuron morphology and physiology (J:150215)

nervous system
• by P30, outer and inner hair cells are missing unlike in wild-type mice
• by P21, outer hair cells are lost from the cochlea unlike wild-type mice
• by P30 outer and inner hair cells are missing unlike in wild-type mice
• disrupted integrity that is more severe than in Clrn1tm2.1Kuna homozygotes
• however, tip links are normal
• outer hair cell stereociliary bundles are disorganized and circular clusters of abnormal stereocilia are observed
• there is little progression in the severity of stereocilia defects between P2 and P15
• cochlear hair cells exhibit reduced FM1-43 loading compared with wild-type cells
• cochlear hair cells exhibit reduced amplitudes and sensitivity of transduction currents compared with wild-type cells
• at P18 at 2, 4 and 8 kHz
• vestibular hair cells exhibit reduced amplitudes and sensitivity of transduction currents compared with wild-type cells

Mouse Models of Human Disease
OMIM IDRef(s)
Usher Syndrome, Type IIIA; USH3A 276902 J:150215