All Phenotypes Srrm4<bv> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Srrm4^bv/Srrm4^bv	involves: 129	MGI:2658869
hm2	Srrm4^bv/Srrm4^bv	Not Specified	MGI:2658872
cx3	Srrm3^{Gt(IST12726F8)Tigm}/Srrm3^{Gt(IST12726F8)Tigm} Srrm4^bv/Srrm4^bv	involves: C57BL/6N	MGI:6378726
cx4	Srrm4^bv/Srrm4^bv Tg(Myo7a-Srrm4)#Bban/0	Not Specified	MGI:5469045

Allelic Composition	Srrm4^bv/Srrm4^bv
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srrm4^bv mutation (2 available); any Srrm4 mutation (39 available)

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

hearing/vestibular/ear

abnormal cochlear inner hair cell morphology ( J:31165 )

• inner hair cells are slightly disorganized in the E18 cochlea

• with time, most inner hair cells protrude into the scala media, lose their stereocilia and change appearance from elongated to round

cochlear inner hair cell degeneration ( J:31165 )

• degeneration of inner hair cells begins in the basal turn at around E17 and continues until about the time of birth

• degeneration of inner hair cells in the apical turn begins around the time of birth and continues until about P3

• cells that survive occur singly, in pairs or in short runs

nervous system

abnormal cochlear inner hair cell morphology ( J:31165 )

• inner hair cells are slightly disorganized in the E18 cochlea

• with time, most inner hair cells protrude into the scala media, lose their stereocilia and change appearance from elongated to round

cochlear inner hair cell degeneration ( J:31165 )

• degeneration of inner hair cells begins in the basal turn at around E17 and continues until about the time of birth

• degeneration of inner hair cells in the apical turn begins around the time of birth and continues until about P3

• cells that survive occur singly, in pairs or in short runs

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

The abnormal inner hair cell phenotype of Srrm4^bv/Srrm4^bv mice is rescued by hair-cell targeted expression of the Tg(Myo7a-Srrm4)#Bban transgene

hearing/vestibular/ear

abnormal inner ear morphology ( J:13866 , J:28889 )

• degeneration of maculae (J:13866)

abnormal cochlear hair cell development ( J:39922 )

• as secondary to IHC degeneration, the regular arrangment of pillar cells and outer hair cells are broken

abnormal cochlear inner hair cell morphology ( J:6106 , J:13866 )

• majority of inner hair cells formed are grossly abnormal (J:6106)

• very small, and rounded or occur in abnormal position (J:6106)

• abnormalities are visible in the newborn (J:6106)

• inner hair cells are either absent or malformed (J:13866)

decreased cochlear inner hair cell number ( J:193641 )

• at P5

absent cochlear inner hair cells ( J:6106 )

• maybe absent or malformed at birth

• those that are formed and normal had a tendency to disapper with age

cochlear inner hair cell degeneration ( J:39922 )

• degenerate in the basal/middle coils between 17 and 18 gestational days

abnormal pillar cell morphology ( J:6106 )

absent pillar cells ( J:6106 )

• maybe absent or malformed

abnormal vestibular hair cell morphology ( J:28889 )

decreased vestibular hair cell number ( J:193641 )

• at P5

absent vestibular hair cell stereocilia ( J:193641 )

abnormal crista ampullaris morphology ( J:13866 )

• degeneration of cristae

abnormal utricular macula morphology ( J:28889 )

utricular macular degeneration ( J:28889 )

• EM analysis shows considerable lack of hair bundles by 3 days of age

• early degeneration of many sensory cells

• many hair bundles and surviving sensory cells show abnormalities and delayed maturation

• immature features are seen in the vestibular ganglion

abnormal hearing electrophysiology ( J:32693 )

increased or absent threshold for auditory brainstem response ( J:117755 )

• the wave IV threshold of the click-evoked ABR was higher than the DPOAE threshold with the DP growth method

abnormal otoacoustic response ( J:32693 )

• emissions with small amplitude and an increase of 30 decibels in threshold

abnormal distortion product otoacoustic emission ( J:117755 )

• the wave IV threshold of the click-evoked ABR was higher than the DPOAE threshold with the DP growth method

deafness ( J:6106 , J:13866 , J:193641 )

• no response to sound at all or respond very slightly during a short period at about 13 days after birth (J:6106)

• mice are near deaf (J:13866)

nervous system

abnormal cochlear hair cell development ( J:39922 )

• as secondary to IHC degeneration, the regular arrangment of pillar cells and outer hair cells are broken

abnormal cochlear inner hair cell morphology ( J:6106 , J:13866 )

• majority of inner hair cells formed are grossly abnormal (J:6106)

• very small, and rounded or occur in abnormal position (J:6106)

• abnormalities are visible in the newborn (J:6106)

• inner hair cells are either absent or malformed (J:13866)

decreased cochlear inner hair cell number ( J:193641 )

• at P5

absent cochlear inner hair cells ( J:6106 )

• maybe absent or malformed at birth

• those that are formed and normal had a tendency to disapper with age

cochlear inner hair cell degeneration ( J:39922 )

• degenerate in the basal/middle coils between 17 and 18 gestational days

abnormal vestibular hair cell morphology ( J:28889 )

decreased vestibular hair cell number ( J:193641 )

• at P5

absent vestibular hair cell stereocilia ( J:193641 )

cochlear ganglion degeneration ( J:6106 )

• normal at birth, but degenerate rapidly afterword that the ganglion is thinner by 6 days

• after about 4 months very few cells remain

behavior/neurological

abnormal pinna reflex ( J:6106 )

impaired balance ( J:193641 )

• on a horizontal rod

head tossing ( J:39922 )

circling ( J:39922 )

Allelic Composition	Srrm3^{Gt(IST12726F8)Tigm}/Srrm3^{Gt(IST12726F8)Tigm} Srrm4^bv/Srrm4^bv
Genetic Background	involves: C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srrm3^{Gt(IST12726F8)Tigm} mutation (0 available); any Srrm3 mutation (28 available)
Srrm4^bv mutation (2 available); any Srrm4 mutation (39 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:281311 )

• mice die neonatally due to an inability to start breathing

respiratory system

respiratory failure ( J:281311 )

• none of the newborn mice start to breathe and alveoli of newborns are not expanded with air

nervous system

abnormal neuron physiology ( J:281311 )

• cortical neurons form functional synapses in vitro, but their spontaneous activity is abnormal, with calcium oscillations being of an abnormally high amplitude and low frequency and they are highly synchronized

• however, no anatomical defects are seen in the brain at E19

abnormal GABA-mediated receptor currents ( J:281311 )

• cortical neurons are defective for the developmental switch in GABAergic neurotransmission

• cortical neuron cultures treated with the GABA(A)R inhibitor gabazine show a reduction in the amplitude and an increase in the frequency of calcium oscillations, the opposite of wild-type cultures which show increased amplitude and decreased frequency of calcium oscillations

• cortical neuron cultures and brain slice cultures treated with the GABA(A)R agonist muscimol show increased intracellular calcium compared to wild-type cultures in which few neurons respond to muscimol

• more neurons from spinal cord slices respond to a mix of GABA and glycine with elevated intracellular calcium than in wild-type slices

Allelic Composition	Srrm4^bv/Srrm4^bv Tg(Myo7a-Srrm4)#Bban/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srrm4^bv mutation (2 available); any Srrm4 mutation (39 available)
Tg(Myo7a-Srrm4)#Bban mutation (0 available)

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

The abnormal inner hair cell phenotype of Srrm4^bv/Srrm4^bv mice is rescued by hair-cell targeted expression of the Tg(Myo7a-Srrm4)#Bban transgene

behavior/neurological

behavior/neurological phenotype ( J:193641 )

N	• mice exhibit restored balance

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:193641 )

N	• hearing, utricle and cochlear inner cells are restored

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