About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pou4f3tm1Rsd
targeted mutation 1, Michael G Rosenfeld
MGI:2176270
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pou4f3tm1Rsd/Pou4f3tm1Rsd involves: 129S4/SvJae MGI:3583887
hm2
Pou4f3tm1Rsd/Pou4f3tm1Rsd involves: 129S4/SvJae * C57BL/6 MGI:3688922
ht3
Pou4f3tm1Rsd/Pou4f3+ involves: 129S4/SvJae * C57BL/6 MGI:3688923


Genotype
MGI:3583887
hm1
Allelic
Composition
Pou4f3tm1Rsd/Pou4f3tm1Rsd
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3tm1Rsd mutation (0 available); any Pou4f3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severe deficits in balance and coordination by P14 (J:33502)
• severe deficits in balance and coordination by P14 (J:33502)
• marked hyperactivity by 5-6 weeks (J:33502)
• marked hyperactivity by 5-6 weeks (J:33502)

hearing/vestibular/ear
• loss of neurons and nerve fibers in the apical cochlear turn (J:207266)
• ears have very few fibers in the area of Rosenthal's canal that leads to the osseous spiral lamina (J:207266)
• only a few peripheral nerve fibers are seen, which are thin and appear to preferentially grow toward the actin rich cells but not beyond them (J:207266)
• treatment with an adenovirus expressing BDNF results in robust nerve fiber generation at both the apex and base of the cochlea, showing sprouting of nerve fibers into the epithelium (J:207266)
• loss of neurons and nerve fibers in the apical cochlear turn (J:207266)
• ears have very few fibers in the area of Rosenthal's canal that leads to the osseous spiral lamina (J:207266)
• only a few peripheral nerve fibers are seen, which are thin and appear to preferentially grow toward the actin rich cells but not beyond them (J:207266)
• treatment with an adenovirus expressing BDNF results in robust nerve fiber generation at both the apex and base of the cochlea, showing sprouting of nerve fibers into the epithelium (J:207266)
• sensory epithelium shows no hair cells at 6 weeks of age, and cells with features of Deiters cells, pillar cells, and other supporting cells are not seen, although actin-rich cells are seen; instead, it resembles a flat epithelium, composed of a single layer of cuboidal epithelial cells (J:207266)
• actin-rich cells are clustered in patches along the auditory epithelium (J:207266)
• sensory epithelium shows no hair cells at 6 weeks of age, and cells with features of Deiters cells, pillar cells, and other supporting cells are not seen, although actin-rich cells are seen; instead, it resembles a flat epithelium, composed of a single layer of cuboidal epithelial cells (J:207266)
• actin-rich cells are clustered in patches along the auditory epithelium (J:207266)
• incomplete cavitation of the organ of Corti at P0 (J:33502)
• incomplete cavitation of the organ of Corti at P0 (J:33502)
• at P0, IHCs and OHCs in the organ of Corti fail to show early signs of differentiation (J:33502)
• at P0, IHCs and OHCs in the organ of Corti fail to show early signs of differentiation (J:33502)
• by P14, no hair cells are identified in the organ of Corti (J:33502)
• by P14, no hair cells are identified in the organ of Corti (J:33502)
• auditory epithelium contains no sensory hair cells (J:207266)
• auditory epithelium contains no sensory hair cells (J:207266)
• lack of stereocilia in the auditory epithelium (J:207266)
• lack of stereocilia in the auditory epithelium (J:207266)
• at P0, IHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, IHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, OHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, OHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• lack of cuticular plate in the auditory epithelium (J:207266)
• lack of cuticular plate in the auditory epithelium (J:207266)
• by P14, many of the normal supporting cell populations are absent in the organ of Corti (J:33502)
• by P14, many of the normal supporting cell populations are absent in the organ of Corti (J:33502)
• tunnel of Corti is sometimes absent (J:207266)
• tunnel of Corti is sometimes absent (J:207266)
• at P0, no hair cells are identified in the sensory epithelia of the maculae and the cristae; the row of nuclei above the supporting cell nuclei is poorly organized (J:33502)
• at P0, no hair cells are identified in the sensory epithelia of the maculae and the cristae; the row of nuclei above the supporting cell nuclei is poorly organized (J:33502)
• at P0, stereocilia bundles are absent in the sensory epithelia of the maculae and the cristae (J:33502)
• at P0, stereocilia bundles are absent in the sensory epithelia of the maculae and the cristae (J:33502)
• at P42, mice exhibit a complete failure of click-evoked ABRs to stimuli up to 80 dB above normal threshold (J:33502)
• at P42, mice exhibit a complete failure of click-evoked ABRs to stimuli up to 80 dB above normal threshold (J:33502)
• complete deafness by P42 (J:33502)
• complete deafness by P42 (J:33502)

nervous system
• at P0, IHCs and OHCs in the organ of Corti fail to show early signs of differentiation (J:33502)
• at P0, IHCs and OHCs in the organ of Corti fail to show early signs of differentiation (J:33502)
• by P14, no hair cells are identified in the organ of Corti (J:33502)
• by P14, no hair cells are identified in the organ of Corti (J:33502)
• auditory epithelium contains no sensory hair cells (J:207266)
• auditory epithelium contains no sensory hair cells (J:207266)
• lack of stereocilia in the auditory epithelium (J:207266)
• lack of stereocilia in the auditory epithelium (J:207266)
• at P0, IHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, IHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, OHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, OHCs in the organ of Corti fail to show early signs of differentiation, including growth of stereocilia and segregation of cell nuclei to a plane above the level of supporting cell nuclei (J:33502)
• at P0, no hair cells are identified in the sensory epithelia of the maculae and the cristae; the row of nuclei above the supporting cell nuclei is poorly organized (J:33502)
• at P0, no hair cells are identified in the sensory epithelia of the maculae and the cristae; the row of nuclei above the supporting cell nuclei is poorly organized (J:33502)
• at P0, stereocilia bundles are absent in the sensory epithelia of the maculae and the cristae (J:33502)
• at P0, stereocilia bundles are absent in the sensory epithelia of the maculae and the cristae (J:33502)
• the number of spiral ganglion neurons is greatly reduced in Rosenthal's canal (J:207266)
• the spiral ganglion neurons that remain are smaller and outer perimeters are irregular (J:207266)
• treatment with an adenovirus expressing BDNF results in preservation of spiral ganglion neurons (J:207266)
• the number of spiral ganglion neurons is greatly reduced in Rosenthal's canal (J:207266)
• the spiral ganglion neurons that remain are smaller and outer perimeters are irregular (J:207266)
• treatment with an adenovirus expressing BDNF results in preservation of spiral ganglion neurons (J:207266)
• at P0, the cochlea and spiral ganglion appear grossly normal (J:33502)
• however, most spiral ganglion cells degenerate by P14 (J:33502)
• at P0, the cochlea and spiral ganglion appear grossly normal (J:33502)
• however, most spiral ganglion cells degenerate by P14 (J:33502)
• complete degeneration of vestibular ganglion by P14, with absence of calycial endings surrounding type I hair cells (J:33502)
• complete degeneration of vestibular ganglion by P14, with absence of calycial endings surrounding type I hair cells (J:33502)




Genotype
MGI:3688922
hm2
Allelic
Composition
Pou4f3tm1Rsd/Pou4f3tm1Rsd
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3tm1Rsd mutation (0 available); any Pou4f3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in response to hypergravity (2G), homozygotes fail to exhibit the expected reduction in circadian rhythm amplitude which normally lasts for ~7 days (J:81013)
• in response to hypergravity (2G), homozygotes fail to exhibit the expected reduction in circadian rhythm amplitude which normally lasts for ~7 days (J:81013)
• at 1 month of age, homozygotes display hyperactivity (J:57149)
• at 1 month of age, homozygotes display hyperactivity (J:57149)
• at 1 month of age, homozygotes tend to circle (J:57149)
• at 1 month of age, homozygotes tend to circle (J:57149)

hearing/vestibular/ear
• at 6 weeks, the organ of Corti contains undifferentiated supporting cells with the exception of some pillar cells (J:57149)
• at 6 weeks, the organ of Corti contains undifferentiated supporting cells with the exception of some pillar cells (J:57149)
• at 6 weeks, the Rosenthal canal, which contains the spiral ganglion, appears to be smaller than normal (J:57149)
• the channels in the bone in the osseus spiral lamina are also reduced (J:57149)
• at 6 weeks, the Rosenthal canal, which contains the spiral ganglion, appears to be smaller than normal (J:57149)
• the channels in the bone in the osseus spiral lamina are also reduced (J:57149)
• at 18 months, the basilar membrane may totally lack cells in the basal turn, while the middle and apical turns contain cells with few organelles (J:57149)
• at 18 months, the basilar membrane may totally lack cells in the basal turn, while the middle and apical turns contain cells with few organelles (J:57149)
• at 6 weeks, homozygotes display absence of hair cells in the organ of Corti (J:57149)
• however, the tectorial membrane appears to be unaffected by the absence of hair cells or the disruption of the organ of Corti (J:57149)
• at 6 weeks, homozygotes display absence of hair cells in the organ of Corti (J:57149)
• however, the tectorial membrane appears to be unaffected by the absence of hair cells or the disruption of the organ of Corti (J:57149)
• by 18 months, supporting cells show complete degeneration in some areas (J:57149)
• by 18 months, supporting cells show complete degeneration in some areas (J:57149)
• at 18 months, homozygotes display severe degeneration of the organ of Corti (J:57149)
• at 18 months, homozygotes display severe degeneration of the organ of Corti (J:57149)
• at 18 months, the stria vascularis is normal except in the extreme apex where it is thin and degenerated (J:57149)
• at 18 months, the stria vascularis is normal except in the extreme apex where it is thin and degenerated (J:57149)
• at 5-7 weeks of age, homozygotes are deaf (J:57149)
• at 5-7 weeks of age, homozygotes are deaf (J:57149)

nervous system
• at 6 weeks, homozygotes display absence of hair cells in the organ of Corti (J:57149)
• however, the tectorial membrane appears to be unaffected by the absence of hair cells or the disruption of the organ of Corti (J:57149)
• at 6 weeks, homozygotes display absence of hair cells in the organ of Corti (J:57149)
• however, the tectorial membrane appears to be unaffected by the absence of hair cells or the disruption of the organ of Corti (J:57149)
• at 18 months, the spiral ganglion consists of a few neurons and myelinated fibers although these lack hair cell targets (J:57149)
• at 18 months, the spiral ganglion consists of a few neurons and myelinated fibers although these lack hair cell targets (J:57149)
• at 6 weeks, homozygotes show a significant reduction in the number of spiral ganglion cells in the middle cochlear turn; the basal and apical turns are not as affected (J:57149)
• by 18 months, homozygotes show severe degeneration of the spiral ganglion cells (J:57149)
• at 6 weeks, homozygotes show a significant reduction in the number of spiral ganglion cells in the middle cochlear turn; the basal and apical turns are not as affected (J:57149)
• by 18 months, homozygotes show severe degeneration of the spiral ganglion cells (J:57149)
• in response to hypergravity (2G exposure), homozygotes lack a normal autonomic response i.e. a dramatic drop in body temperature and concomitant circadian adjustment (J:81013)
• however, no differences in mean daily temperature and circadian rhythm amplitude are noted after chronic 2G (2 wks) or during the 1G recovery relative to wild-type littermates (J:81013)
• in addition, unlike wild-type mice, homozygotes show virtually no increase in neuronal activity (i.e. Fos induction) in the vestibular complex and parabrachial nucleus after 2G exposure (J:81013)
• only minor numbers of 2G-induced Fos immunoreactive neurons are detected, mainly in the nucleus of solitary tract (NST) and the central nucleus of amygdala (CNA), suggesting an intact afferent vagal component (J:81013)
• in response to hypergravity (2G exposure), homozygotes lack a normal autonomic response i.e. a dramatic drop in body temperature and concomitant circadian adjustment (J:81013)
• however, no differences in mean daily temperature and circadian rhythm amplitude are noted after chronic 2G (2 wks) or during the 1G recovery relative to wild-type littermates (J:81013)
• in addition, unlike wild-type mice, homozygotes show virtually no increase in neuronal activity (i.e. Fos induction) in the vestibular complex and parabrachial nucleus after 2G exposure (J:81013)
• only minor numbers of 2G-induced Fos immunoreactive neurons are detected, mainly in the nucleus of solitary tract (NST) and the central nucleus of amygdala (CNA), suggesting an intact afferent vagal component (J:81013)

homeostasis/metabolism
• in response to hypergravity, homozygotes fail to exhibit the expected dramatic fall in mean body temperature immediately after exposure to 2G (J:81013)
• in response to hypergravity, homozygotes fail to exhibit the expected dramatic fall in mean body temperature immediately after exposure to 2G (J:81013)

cellular
• at 6 weeks, the organ of Corti contains undifferentiated supporting cells with the exception of some pillar cells (J:57149)
• at 6 weeks, the organ of Corti contains undifferentiated supporting cells with the exception of some pillar cells (J:57149)




Genotype
MGI:3688923
ht3
Allelic
Composition
Pou4f3tm1Rsd/Pou4f3+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3tm1Rsd mutation (0 available); any Pou4f3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• at 2, 18 and 24 months of age, heterozygotes exhibit a comparable hearing to wild-type mice, with similar patterns of cochlear degeneration (J:57149)
• both heterozygous and wild-type mice display a ~30 dB hearing loss beginning at 18 months of age, outer hair cell degeneration and loss of spiral ganglion neurons in the basal turn (J:57149)
• at 2, 18 and 24 months of age, heterozygotes exhibit a comparable hearing to wild-type mice, with similar patterns of cochlear degeneration (J:57149)
• both heterozygous and wild-type mice display a ~30 dB hearing loss beginning at 18 months of age, outer hair cell degeneration and loss of spiral ganglion neurons in the basal turn (J:57149)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Deafness, Autosomal Dominant 15; DFNA15 602459 J:57149





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory