Phenotypes associated with this allele

• Allele Symbol: Gpsm2^tm1.2Fuma
• Allele Name: targeted mutation 1.2, Fumio Matsuzaki
• Allele ID: MGI:3850860
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gpsm2^tm1.2Fuma/Gpsm2^tm1.2Fuma	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj	MGI:3850961

Genotype
MGI:3850961

hm1

• Allelic Composition: Gpsm2^tm1.2Fuma/Gpsm2^tm1.2Fuma
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

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

behavior/neurological

absent pinna reflex ( J:230725 )

• mice do not exhibit a Preyers reflex

absent startle reflex ( J:230725 )

• mice do not exhibit a startle response to auditory stimulus

nervous system

nervous system phenotype ( J:132370 , J:230725 )

N • no apparent affect on neuronal production (J:132370)

N • mice do not exhibit any overt differences in gross brain morphology compared to controls (J:230725)

abnormal inner hair cell stereociliary bundle morphology ( J:230725 )

• stereocilia of inner hair cells is short and stubby at P0, showing multiple rows of projections of uniform thickness instead of a single row of thick, long projections and shorter transient microvilli

• extra rows of stereocilia persist into adulthood and become short and stubby by P15, lacking the flexible tapered base and a staircase structure

short inner hair cell stereocilia ( J:230725 )

abnormal outer hair cell stereociliary bundle morphology ( J:230725 )

• in outer hair cells, hair bundles are much flatter than the V-shaped stereocilia of controls

• 1.5-6.5% of outer hair cells show a spilt hair bundle in which 2 separate sterocilia clusters form at the apical surface of a single cell, with the kinocilium adjacent to only one cluster

• severity of hair bundle defects increases over time

abnormal orientation of outer hair cell stereociliary bundles ( J:230725 )

• hair bundles are misoriented, with a broader distribution of hair bundle orientation in the 2nd and 3rd rows of outer hair cells

• an average of 11% of hair cells is misoriented

abnormal neuron specification ( J:132370 )

• orientation of apical divisions of the dorsolateral brain are randomized

• Pax6 expressing daughter cells appear in the subventricular zone

hearing/vestibular/ear

abnormal inner hair cell stereociliary bundle morphology ( J:230725 )

• stereocilia of inner hair cells is short and stubby at P0, showing multiple rows of projections of uniform thickness instead of a single row of thick, long projections and shorter transient microvilli

• extra rows of stereocilia persist into adulthood and become short and stubby by P15, lacking the flexible tapered base and a staircase structure

short inner hair cell stereocilia ( J:230725 )

abnormal outer hair cell stereociliary bundle morphology ( J:230725 )

• in outer hair cells, hair bundles are much flatter than the V-shaped stereocilia of controls

• 1.5-6.5% of outer hair cells show a spilt hair bundle in which 2 separate sterocilia clusters form at the apical surface of a single cell, with the kinocilium adjacent to only one cluster

• severity of hair bundle defects increases over time

abnormal orientation of outer hair cell stereociliary bundles ( J:230725 )

• hair bundles are misoriented, with a broader distribution of hair bundle orientation in the 2nd and 3rd rows of outer hair cells

• an average of 11% of hair cells is misoriented

increased or absent threshold for auditory brainstem response ( J:230725 )

• P17 mice show increased hearing threshold across all tested frequencies and an ABR response is not detected at the highest tested intensity of 100 dB

deafness ( J:230725 )

• mice are profoundly deaf at P17

cellular

abnormal cell differentiation ( J:132370 )

• orientation of apical divisions of the dorsolateral brain are randomized

• results in Pax6 expressing daughter cells appearing in the subventricular zone