Phenotypes Associated with This Genotype

Genotype
MGI:5704195

• Allelic Composition: Pcdh15^roda/Pcdh15^roda
• Genetic Background: BALB/c-Pcdh15^roda

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

behavior/neurological

impaired balance ( J:220658 )

• balance dysfunction

head bobbing ( J:227974 )

• increases in intensity when mouse is stressed

circling ( J:227974 )

• increases in intensity when mouse is stressed

cellular

abnormal inner hair cell kinocilium location or orientation ( J:220658 )

• kinocilia are positioned randomly within the cuticular plate at E18-20

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:220658 )

• the height-graded stereocilia bundles are misshapen with kinocilia positioned randomly within the cuticular plate at E18-20

• at P21, the cuticular plates and hair bundles of outer and inner hair cells show a high degree of irregularity in shape and size

• at P50, the staircase-like organization of the stereocilia bundle disappears starting from the basal turn of cochlea stereocilia and stereocilia fusion progresses towards the apical turn

• the tips of all stereocilia are dome-shaped rather than pointed

• however, both horizontal top connectors and tip links are present in stereocilia bundles

abnormal inner hair cell kinocilium location or orientation ( J:220658 )

• kinocilia are positioned randomly within the cuticular plate at E18-20

decreased inner hair cell stereocilia number ( J:220658 )

• often hair bundles are formed by only two rows of stereocilia, instead of the usual three and the length of the stereocilia within the same row is highly variable

fused inner hair cell stereocilia ( J:220658 )

• stereocilia start to fuse together in the basal turn of the cochlea at P21

• at P50, stereocilia fusion progresses towards the apical turn

cochlear hair cell degeneration ( J:220658 )

• at 1 year of age, only a very few severely affected inner hair cells with very few fused stereocilia on their reduced apical surface are found in the apical turn, whereas no hair cells can be seen in other regions of the cochlea

• however, mice exhibit normal cochlear shape, size, and middle ear ossicles, and all parts of the vestibular system are present

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:220658 )

• the height-graded stereocilia bundles are misshapen with kinocilia positioned randomly within the cuticular plate at E18-20

• at P21, the cuticular plates and hair bundles of outer and inner hair cells show a high degree of irregularity in shape and size

• at P50, the staircase-like organization of the stereocilia bundle disappears starting from the basal turn of cochlea stereocilia and stereocilia fusion progresses towards the apical turn

• the tips of all stereocilia are dome-shaped rather than pointed

• however, both horizontal top connectors and tip links are present in stereocilia bundles

abnormal inner hair cell kinocilium location or orientation ( J:220658 )

• kinocilia are positioned randomly within the cuticular plate at E18-20

decreased inner hair cell stereocilia number ( J:220658 )

• often hair bundles are formed by only two rows of stereocilia, instead of the usual three and the length of the stereocilia within the same row is highly variable

fused inner hair cell stereocilia ( J:220658 )

• stereocilia start to fuse together in the basal turn of the cochlea at P21

• at P50, stereocilia fusion progresses towards the apical turn

cochlear hair cell degeneration ( J:220658 )

• at 1 year of age, only a very few severely affected inner hair cells with very few fused stereocilia on their reduced apical surface are found in the apical turn, whereas no hair cells can be seen in other regions of the cochlea

• however, mice exhibit normal cochlear shape, size, and middle ear ossicles, and all parts of the vestibular system are present

deafness ( J:220658 , J:227974 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 23		DOID:0110481	OMIM:609533	J:220658
Usher syndrome type 1F		DOID:0110832	OMIM:602083	J:220658