Phenotypes associated with this allele

• Allele Symbol: Pou4f2^tm3Whk
• Allele Name: targeted mutation 3, William H Klein
• Allele ID: MGI:2429633
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou4f2^tm3Whk/Pou4f2^tm3Whk	Not Specified	MGI:3714507
cx2	Pou4f2^tm3Whk/Pou4f2^tm3Whk Pou4f3^tm1Whk/Pou4f3^tm1Whk	Not Specified	MGI:3714509

Genotype
MGI:3714507

hm1

• Allelic Composition: Pou4f2^tm3Whk/Pou4f2^tm3Whk
• Genetic Background: Not Specified

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

vision/eye

abnormal optic nerve morphology ( J:73779 )

• the total number of axons is reduced and many of the axons that reach the optic chiasm are abnormal and misrouted dorsally to the hypothalamus or occasionally to the optic nerve of the other eye

abnormal retina morphology ( J:73779 )

• while the number of retinal ganglion cells are decreased the number of displaced amacrine cells is increased threefold

increased amacrine cell number ( J:73779 )

• the number of displaced amacrine cells is increased threefold

abnormal retina ganglion cell morphology ( J:73779 )

• neurons from the retinal ganglion cell (RGC) layer have abnormal neurite outgrowths in vitro, suggestive of dendrites rather than axons

decreased retina ganglion cell number ( J:73779 )

• at 3 weeks, retinal ganglion cell number of the ventral-temporal region is 85% of the cells found in wild-type

• overall, retinal ganglion cells in the retina are reduced by 65%

thin retina ganglion layer ( J:73779 )

• the retinal ganglion cell (RGC) layer is composed of 6+/-2 RGCs with two-thirds of the layer being composed of amacrine cells compared to wild-type RGC layer which are composed of 15+/-3 RGCs and the layer of one third amacrine cells

abnormal retina nerve fiber layer morphology ( J:73779 )

• at E16.5 and 3 weeks, fewer optic fibers form and those present are entangled and cross or by-pass the optic disk

nervous system

abnormal sensory neuron innervation pattern ( J:73779 )

• at E16.5 and 3 weeks, fewer optic fibers form and those present are entangled and cross or by-pass the optic disk

• at 3 weeks, a larger proportion of axons are directed ipsilaterally increasing the ipsilateral/contralateral ratio to almost 1.0

increased amacrine cell number ( J:73779 )

• the number of displaced amacrine cells is increased threefold

abnormal retina ganglion cell morphology ( J:73779 )

• neurons from the retinal ganglion cell (RGC) layer have abnormal neurite outgrowths in vitro, suggestive of dendrites rather than axons

decreased retina ganglion cell number ( J:73779 )

• at 3 weeks, retinal ganglion cell number of the ventral-temporal region is 85% of the cells found in wild-type

• overall, retinal ganglion cells in the retina are reduced by 65%

abnormal optic nerve morphology ( J:73779 )

• the total number of axons is reduced and many of the axons that reach the optic chiasm are abnormal and misrouted dorsally to the hypothalamus or occasionally to the optic nerve of the other eye

Genotype
MGI:3714509

cx2

• Allelic Composition: Pou4f2^tm3Whk/Pou4f2^tm3Whk; Pou4f3^tm1Whk/Pou4f3^tm1Whk
• Genetic Background: Not Specified

vision/eye

abnormal retina morphology ( J:73779 )

• while the number of retinal ganglion cells are decreased the number of displaced amacrine cells is increased

• retina suffer a greater loss of projections emanating from the ventral-temporal region than from the dorsal-nasal region

increased amacrine cell number ( J:73779 )

• amacrine cells are increased in number

abnormal retina ganglion cell morphology ( J:73779 )

• cells of the retinal ganglion cell (RGC) layer are unable to extend processes and some subsequently undergo apoptosis

• reduction of axon outgrowth is more severe than in Pou4f3^tm1Kln homogygotes

• however, axons that are present are correctly routed

decreased retina ganglion cell number ( J:73779 )

• retinal ganglion cells are reduced to 60% of wild-type

• cells that normally express Pou4f3 experience increased apoptosis

• at 3 weeks, retinal ganglion cell number of the ventral-temporal region is 70% of the cells found in wild-type

• overall, retinal ganglion cells in the retina are reduced by 60% compared to the Pou4f3^tm1Kln homogygotes

thin retina ganglion layer ( J:73779 )

• the retinal ganglion cell (RGC) layer is composed of 2+/-2 RGCs with 90% of the layer being composed of amacrine cells compared to wild-type RGC layer which are composed of 15+/-3 RGCs and the layer of one third amacrine cells

abnormal retina nerve fiber layer morphology ( J:73779 )

• at 3 weeks, optic fibers are virtually absent

• however, axons that are present are routed correctly

hearing/vestibular/ear

deafness ( J:73779 )

abnormal vestibular system physiology ( J:73779 )

• mice have vestibular impairments that are more severe than in Pou4f3^tm1Kln homogygotes

nervous system

abnormal sensory neuron innervation pattern ( J:73779 )

• at 3 weeks, loss of retinal ganglion cells projections emanating from the ventral-temporal region is greater than the loss of projections from the dorsal-nasal region

increased amacrine cell number ( J:73779 )

• amacrine cells are increased in number

abnormal retina ganglion cell morphology ( J:73779 )

• cells of the retinal ganglion cell (RGC) layer are unable to extend processes and some subsequently undergo apoptosis

• reduction of axon outgrowth is more severe than in Pou4f3^tm1Kln homogygotes

• however, axons that are present are correctly routed

decreased retina ganglion cell number ( J:73779 )

• retinal ganglion cells are reduced to 60% of wild-type

• cells that normally express Pou4f3 experience increased apoptosis

• at 3 weeks, retinal ganglion cell number of the ventral-temporal region is 70% of the cells found in wild-type

• overall, retinal ganglion cells in the retina are reduced by 60% compared to the Pou4f3^tm1Kln homogygotes