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 (40 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 (40 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 (40 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

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 12/10/2024 MGI 6.24