Phenotypes associated with this allele

• Allele Symbol: Pou3f3^tm1Rmc
• Allele Name: targeted mutation 1, Robert J McEvilly
• Allele ID: MGI:2660725
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou3f3^tm1Rmc/Pou3f3^tm1Rmc	Not Specified	MGI:2660728
cx2	Pou3f2^tm1Rsd/Pou3f2^tm1Rsd Pou3f3^tm1Rmc/Pou3f3^tm1Rmc	involves: 129S4/SvJae * C57BL/6	MGI:2660729

Genotype
MGI:2660728

hm1

• Allelic Composition: Pou3f3^tm1Rmc/Pou3f3^tm1Rmc
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:74989 )

• homozygotes were born alive but failed to survive longer than 36 hours postpartum

craniofacial

abnormal styloid process morphology ( J:139700 )

• the stapes and styloid process are fused

absent temporal bone squamous part ( J:139700 )

• largely missing with the exception of the retrotympanic process

absent temporomandibular joint ( J:139700 )

• mice lack a jaw joint

absent zygomatic bone ( J:139700 )

abnormal incus short process morphology ( J:139700 )

• the incus has a slightly elongated short crus

abnormal stapes morphology ( J:139700 )

• the stapes and styloid process are fused

nervous system

abnormal hippocampus morphology ( J:74989 )

• homozygotes displayed disorganization of cells in the hippocampus and adjacent transitional cortex

abnormal cerebral cortex morphology ( J:74989 )

• homozygotes displayed disorganized cortical lamination of the cerebral cortex, with retarded radial migration of layers II/III

hearing/vestibular/ear

abnormal incus short process morphology ( J:139700 )

• the incus has a slightly elongated short crus

abnormal stapes morphology ( J:139700 )

• the stapes and styloid process are fused

renal/urinary system

abnormal loop of Henle morphology ( J:74989 )

• homozygotes displayed an abnormality in renal development affecting Henle's loop (data not shown)

skeleton

abnormal styloid process morphology ( J:139700 )

• the stapes and styloid process are fused

absent temporal bone squamous part ( J:139700 )

• largely missing with the exception of the retrotympanic process

absent temporomandibular joint ( J:139700 )

• mice lack a jaw joint

absent zygomatic bone ( J:139700 )

abnormal incus short process morphology ( J:139700 )

• the incus has a slightly elongated short crus

abnormal stapes morphology ( J:139700 )

• the stapes and styloid process are fused

Genotype
MGI:2660729

cx2

• Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd; Pou3f3^tm1Rmc/Pou3f3^tm1Rmc
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:74989 )

• double homozygotes were not viable at birth

nervous system

abnormal cerebellum development ( J:74989 )

abnormal forebrain morphology ( J:74989 )

• double homozygotes displayed abnormalities in axonal outgrowth and projection in the forebrain

abnormal olfactory bulb development ( J:74989 )

abnormal cerebral cortex morphology ( J:74989 )

• double homozygotes displayed abnormal organization of cortical lamination with delayed radial migration of layers II/III

abnormal stratification in cerebral cortex ( J:74989 )

• double homozygotes displayed inversion of cortical layers II-V through aberrant regulation of the p39/p35 regulatory components of CDK5