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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Espnje
jerker
MGI:1856573
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Espnje/Espnje involves: 129X1/SvJ * JE/LeJ MGI:4429891
hm2
Espnje/Espnje involves: A/J * JE/LeJ MGI:4429890
hm3
Espnje/Espnje involves: BALB/cByJ * JE/LeJ MGI:4429889
hm4
Espnje/Espnje involves: CAST/EiJ * JE/LeJ MGI:4429887
hm5
Espnje/Espnje involves: CZECHII/EiJ * JE/LeJ MGI:4429886
hm6
Espnje/Espnje involves: DBA/2J * JE/LeJ MGI:4429888
hm7
Espnje/Espnje involves: fancier's dancing mouse MGI:2175868
hm8
Espnje/Espnje involves: fancier's stocks MGI:3778631
hm9
Espnje/Espnje JE/LeJ MGI:3698722
ht10
Espnje/Espn+ involves: fancier's dancing mouse MGI:3623766
ht11
Espnje/Espn+ JE/LeJ MGI:3698844
cx12
Cdh23v-2J/Cdh23+
Espnje/Espn+
(B6(V)-Cdh23v-2J/J x JE/LeJ)F1 MGI:4429960
cx13
Espnje/?
f/f
Hps6ru/Hps6ru
JE/LeJ MGI:4437009


Genotype
MGI:4429891
hm1
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: 129X1/SvJ * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:4429890
hm2
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: A/J * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:4429889
hm3
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: BALB/cByJ * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:4429887
hm4
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: CAST/EiJ * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:4429886
hm5
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: CZECHII/EiJ * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:4429888
hm6
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: DBA/2J * JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers




Genotype
MGI:2175868
hm7
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 (38 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




Genotype
MGI:3778631
hm8
Allelic
Composition
Espnje/Espnje
Genetic
Background
involves: fancier's stocks
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• decrease in the frequency of digging, forepaw vibrations, wall leans, hair fluffing, fur shaking, and staring at the observer is seen in males
• reduced frequency of grooming in males
• decrease in the frequency of single forepaw lifts in males
• decrease in the frequency of wire mesh climbing in males
• waddling gait
• no rearing behavior is seen in males

digestive/alimentary system
• reduced frequency in males

hearing/vestibular/ear




Genotype
MGI:3698722
hm9
Allelic
Composition
Espnje/Espnje
Genetic
Background
JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• the stereocilia degenerate shortly after birth
• the stereociliary degeneration appeared consistently more advanced in inner hair cells than that of outer hair cells
• although stereocilia bundles were present at birth, the length and width of stereocilia at P0 were reduced
• the stereocilia on outer hair cells were significantly shorter
• ABR assessment on homozygotes at 5 to 6 weeks of age shows no signs of hearing
• VESPs are absent at the maximum stimulus intensity used

behavior/neurological
• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior
• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

nervous system
• the stereocilia degenerate shortly after birth
• the stereociliary degeneration appeared consistently more advanced in inner hair cells than that of outer hair cells
• although stereocilia bundles were present at birth, the length and width of stereocilia at P0 were reduced
• the stereocilia on outer hair cells were significantly shorter




Genotype
MGI:3623766
ht10
Allelic
Composition
Espnje/Espn+
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 (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti
• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split
• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells
• at 12 months of age, IHC loss is evely distributed along the organ of Corti
• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere
• in Espnje/+ mice ABR undergoes a progressive impairment with age, semiquantitatively correlated with pathology of the hair cells

nervous system
• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti
• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split
• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells
• at 12 months of age, IHC loss is evely distributed along the organ of Corti
• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere




Genotype
MGI:3698844
ht11
Allelic
Composition
Espnje/Espn+
Genetic
Background
JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear




Genotype
MGI:4429960
cx12
Allelic
Composition
Cdh23v-2J/Cdh23+
Espnje/Espn+
Genetic
Background
(B6(V)-Cdh23v-2J/J x JE/LeJ)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v-2J mutation (1 available); any Cdh23 mutation (281 available)
Espnje mutation (2 available); any Espn mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• double heterozygotes do not have hearing impairment as determined by click tests and ABR threshold assessments




Genotype
MGI:4437009
cx13
Allelic
Composition
Espnje/?
f/f
Hps6ru/Hps6ru
Genetic
Background
JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (38 available)
f mutation (4 available); any f mutation (4 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased

hematopoietic system
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased

cellular
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory