About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2175868
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: fancier's dancing mouse
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• while circling
• animals breed poorly chiefly because the mothers do not nurse well

hearing/vestibular/ear
• supporting cells in mice 11 days of age show irregularities (J:7124)
• at birth, some hair cells display protrusion and folding of cuticular plates
• at birth, the stereocilia and kinocilia have lost stiffness and are merged together
• at P12, the individual stereocilia are dwarfed and have lost stiffness
• at P36, only remnants of stereocilia remain
• at P12, hair cell degeneration is uniform along the entire organ of Corti (J:1646)
• at P12, the cuticular plate is disintegrating and very few sensory hair rootlets remain (J:1646)
• degeneration of hair cells is first noted at P12 (J:7124)
• by P15, progressive scattered loss of hair cells is seen, as well as extensive patchy areas of more rapid degeneration in the middle and upper part of the basal half turn (J:7124)
• by P30, the apical turn hair cells are degenerating in a patchy pattern with scattered hair cell loss (J:7124)
• by P100, few recognizable hair cells remain in the basal turn and only a few cells are left in the middle half-turn; the apical turn has a few outer and inner hair cells remaining (J:7124)
• the outer hair cells degenerate sooner than the inner hair cells
• at P81 and P108, pillar cells are collapsing (J:1646)
• by P30, few recognizable pillar cells remain in the basal and middle turns (J:7124)
• by P100, only a few pillar cells are left in the middle half turn and some also remain in the apical turn (J:7124)
• at P81 and P108, the organ of Corti consists of a mass of disorganized cells
• histological abnormalities are notable at P17
• slight abnormality of the membrane seen 4 days after birth; membrane proteins are normal (J:7124)
• the membrane is abnormally shaped (J:13046)
• the membrane is not in contact with the hair cells of the organ of Corti
• the hair cells appear short and stumpy; however, they appear healthy
• at birth, some hair cell abnormalities are apparent
• by 2 weeks of age, hair cells are clearly degenerating in the saccular macula
• by P70, most hair cells have withdrawn from the otolithic memebrane and the cell cytoplasm is reduced to a minimum
• by P240, most of the hair cells have disappeared
• hair cells persist up to 50 days of age, but by 3 months of age, the cells are abnormally shaped and have migrated to the otolithic membrane
• by 1 year of age, the hair cells persist but the supporting cell layer is disrupted
• by P452, no trace of hair cells or supporting cells is seen in the saccular macula
• at P240, the otolithic membrane appears disorganized
• the resting EP is significantly higher in homozygous mutant mice compared to heterozygotes up to 30 days of age
• during induced anoxia, the EP value falls at a slower rate than controls and only reaches a less negative value compared to controls
• no detectable cochlear microphonics (CM) could be recorded from the round window at 12-20 days of age
• no detectable action potential could be recorded from the round window at 12-20 days of age
• no response to a sharp metallic click

nervous system
• at birth, some hair cells display protrusion and folding of cuticular plates
• at birth, the stereocilia and kinocilia have lost stiffness and are merged together
• at P12, the individual stereocilia are dwarfed and have lost stiffness
• at P36, only remnants of stereocilia remain
• at P12, hair cell degeneration is uniform along the entire organ of Corti (J:1646)
• at P12, the cuticular plate is disintegrating and very few sensory hair rootlets remain (J:1646)
• degeneration of hair cells is first noted at P12 (J:7124)
• by P15, progressive scattered loss of hair cells is seen, as well as extensive patchy areas of more rapid degeneration in the middle and upper part of the basal half turn (J:7124)
• by P30, the apical turn hair cells are degenerating in a patchy pattern with scattered hair cell loss (J:7124)
• by P100, few recognizable hair cells remain in the basal turn and only a few cells are left in the middle half-turn; the apical turn has a few outer and inner hair cells remaining (J:7124)
• the outer hair cells degenerate sooner than the inner hair cells
• at birth, some hair cell abnormalities are apparent
• by 2 weeks of age, hair cells are clearly degenerating in the saccular macula
• by P70, most hair cells have withdrawn from the otolithic memebrane and the cell cytoplasm is reduced to a minimum
• by P240, most of the hair cells have disappeared
• no detectable cochlear microphonics (CM) could be recorded from the round window at 12-20 days of age
• no detectable action potential could be recorded from the round window at 12-20 days of age
• by P8-9, the cytoplasm of the ganglion cells has shrunk and the cells have irregular shapes
• by P50, the number of cells in the spiral ganglion is reduced; these numbers reduce further with age


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/25/2025
MGI 6.24
The Jackson Laboratory