Phenotypes associated with this allele
Allelic
Composition |
Espnje/Espnje
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Genetic
Background |
involves: 129X1/SvJ * JE/LeJ |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation
(2 available);
any
Espn mutation
(37 available)
|
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hearing/vestibular/ear
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• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
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Allelic
Composition |
Espnje/Espnje
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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
(37 available)
|
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|
hearing/vestibular/ear
|
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• ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
|
Allelic
Composition |
Espnje/Espnje
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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
(37 available)
|
|
|
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
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
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Allelic
Composition |
Espnje/Espnje
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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
(37 available)
|
|
|
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
|
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
|
Allelic
Composition |
Espnje/Espnje
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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
(37 available)
|
|
|
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
|
|
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
|
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
(37 available)
|
|
|
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
|
|
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• a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers
|
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
(37 available)
|
|
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behavior/neurological
 |
• animals breed poorly chiefly because the mothers do not nurse well
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hearing/vestibular/ear
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• supporting cells in mice 11 days of age show irregularities
(J:7124)
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• at birth, some hair cells display protrusion and folding of cuticular plates
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• 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
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• 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)
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• the outer hair cells degenerate sooner than the inner hair cells
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• 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)
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• at P81 and P108, the organ of Corti consists of a mass of disorganized cells
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• histological abnormalities are notable at P17
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• slight abnormality of the membrane seen 4 days after birth; membrane proteins are normal
(J:7124)
• the membrane is abnormally shaped
(J:13046)
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• the membrane is not in contact with the hair cells of the organ of Corti
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• the hair cells appear short and stumpy; however, they appear healthy
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• 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
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• 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
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• by P452, no trace of hair cells or supporting cells is seen in the saccular macula
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• at P240, the otolithic membrane appears disorganized
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• 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
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• no detectable cochlear microphonics (CM) could be recorded from the round window at 12-20 days of age
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• no ABR can be elicited at any age
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• no detectable action potential could be recorded from the round window at 12-20 days of age
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• no response to a sharp metallic click
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nervous system
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• 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)
|
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• the outer hair cells degenerate sooner than the inner hair cells
|
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• 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
|
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• no detectable cochlear microphonics (CM) could be recorded from the round window at 12-20 days of age
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• no detectable action potential could be recorded from the round window at 12-20 days of age
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• by P8-9, the cytoplasm of the ganglion cells has shrunk and the cells have irregular shapes
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• by P50, the number of cells in the spiral ganglion is reduced; these numbers reduce further with age
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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
(37 available)
|
|
|
behavior/neurological
|
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• decrease in the frequency of digging, forepaw vibrations, wall leans, hair fluffing, fur shaking, and staring at the observer is seen in males
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• reduced frequency of grooming in males
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• decrease in the frequency of single forepaw lifts in males
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• decrease in the frequency of wire mesh climbing in males
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• no rearing behavior is seen in males
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digestive/alimentary system
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• reduced frequency in males
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hearing/vestibular/ear
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation
(2 available);
any
Espn mutation
(37 available)
|
|
|
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
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• 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
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• ABR assessment on homozygotes at 5 to 6 weeks of age shows no signs of hearing
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• VESPs are absent at the maximum stimulus intensity used
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behavior/neurological
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• 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
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• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
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nervous system
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• the stereocilia degenerate shortly after birth
• the stereociliary degeneration appeared consistently more advanced in inner hair cells than that of outer hair cells
|
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• 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
|
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
(37 available)
|
|
|
hearing/vestibular/ear
|
|
• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti
|
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• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split
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• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells
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• at 12 months of age, IHC loss is evely distributed along the organ of Corti
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• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere
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• in Espnje/+ mice ABR undergoes a progressive impairment with age, semiquantitatively correlated with pathology of the hair cells
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nervous system
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• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti
|
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• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split
|
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• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells
|
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• at 12 months of age, IHC loss is evely distributed along the organ of Corti
|
|
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• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation
(2 available);
any
Espn mutation
(37 available)
|
|
|
hearing/vestibular/ear
|
N |
• double heterozygotes do not have hearing impairment as determined by click tests and ABR threshold assessments
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immune system
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• 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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hematopoietic system
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• 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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cellular
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• 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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