Phenotypes associated with this allele

• Allele Symbol: Gpsm2^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4441912
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gpsm2^tm1a(EUCOMM)Wtsi/Gpsm2^tm1a(EUCOMM)Wtsi	C57BL/6-Gpsm2^tm1a(EUCOMM)Wtsi	MGI:5609669

Genotype
MGI:5609669

hm1

• Allelic Composition: Gpsm2^{tm1a(EUCOMM)Wtsi}/Gpsm2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6-Gpsm2^{tm1a(EUCOMM)Wtsi}
• Cell Lines: EPD0519_5_E12

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

hearing/vestibular/ear

abnormal kinocilium morphology ( J:214064 )

• assessed at birth, hair cell kinocilia are found occupying positions in the lateral half of the apical surface, but rarely in the medial half, and in the outer hair cells are connected to one of the multiple sub-bundles while in the inner hair cells they are frequently disconnected from the bundle

abnormal cochlear hair cell morphology ( J:214064 )

• the planar polarization of the apical cytoskeleton of cochlear hair cells is disrupted with increasing severity from type 1 to type III hair cells, with defects progressing from disorganized bundle ultrastructure and misaligned stereocilia edge to loss of cytoskeletal asymmetry such that type III hair cells have the surface microtubules concentrated at the center of the cell and sub-bundles distributed around the periphery

abnormal cochlear hair cell stereociliary bundle morphology ( J:214064 , J:236519 )

• at birth the first row stereocilia are slightly shorter than normal and this is more severe at 6 days of age. The stereocilia are drastically stunted in mature mice, with supernumerary rows of similar thickness and only a very shallow staircase pattern (J:236519)

increased or absent threshold for auditory brainstem response ( J:236519 )

deafness ( J:236519 )

nervous system

abnormal kinocilium morphology ( J:214064 )

• assessed at birth, hair cell kinocilia are found occupying positions in the lateral half of the apical surface, but rarely in the medial half, and in the outer hair cells are connected to one of the multiple sub-bundles while in the inner hair cells they are frequently disconnected from the bundle

abnormal cochlear hair cell morphology ( J:214064 )

• the planar polarization of the apical cytoskeleton of cochlear hair cells is disrupted with increasing severity from type 1 to type III hair cells, with defects progressing from disorganized bundle ultrastructure and misaligned stereocilia edge to loss of cytoskeletal asymmetry such that type III hair cells have the surface microtubules concentrated at the center of the cell and sub-bundles distributed around the periphery

abnormal cochlear hair cell stereociliary bundle morphology ( J:214064 , J:236519 )

• at birth the first row stereocilia are slightly shorter than normal and this is more severe at 6 days of age. The stereocilia are drastically stunted in mature mice, with supernumerary rows of similar thickness and only a very shallow staircase pattern (J:236519)

cellular

abnormal kinocilium morphology ( J:214064 )

• assessed at birth, hair cell kinocilia are found occupying positions in the lateral half of the apical surface, but rarely in the medial half, and in the outer hair cells are connected to one of the multiple sub-bundles while in the inner hair cells they are frequently disconnected from the bundle

abnormal cell cytoskeleton morphology ( J:214064 )

• the planar polarization of the apical cytoskeleton of cochlear hair cells is disrupted with increasing severity from type 1 to type III hair cells, with defects progressing from disorganized bundle ultrastructure and misaligned stereocilia edge to loss of cytoskeletal asymmetry such that type III hair cells have the surface microtubules concentrated at the center of the cell and sub-bundles distributed around the periphery