Phenotypes associated with this allele

• Allele Symbol: Pou3f1^tm1Mejr
• Allele Name: targeted mutation 1, Dies Meijer
• Allele ID: MGI:1857995
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou3f1^tm1Mejr/Pou3f1^tm1Mejr	involves: 129P2/OlaHsd * C57BL/6	MGI:3823095
ht2	Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr	involves: 129P2/OlaHsd	MGI:4359762
cn3	Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr Pou3f2^tm1Mejr/Pou3f2^tm1Mejr Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * FVB/N	MGI:4359761

Genotype
MGI:3823095

hm1

• Allelic Composition: Pou3f1^tm1Mejr/Pou3f1^tm1Mejr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:34465 )

• all but 2-4% of animals die soon after birth; survivors live for a longer period

growth/size/body

decreased body size ( J:34465 )

• by P5, surviving mutants can be identified by smaller size

nervous system

abnormal sciatic nerve morphology ( J:34465 )

• nerve appears defective at P8 and P16

abnormal myelination ( J:34465 )

• no myelination of sciatic nerve is seen until second week postnatal whereas myelination is observed at P16 in wild-type

• myelination appears complete in adult nerves

• at P16, only larger axons are myelinated

• some Schwann cells show severely disrupted myelination, and fail to wrap myelin around the axon; other Schwann cells begin myelination before a 1:1 relation with axons is established

• sometimes myelination is seen in absence of axon

behavior/neurological

tremors ( J:34465 )

• by P5, surviving mutants exhibit tremors

Genotype
MGI:4359762

ht2

• Allelic Composition: Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr
• Genetic Background: involves: 129P2/OlaHsd

nervous system

abnormal Schwann cell morphology ( J:83739 )

• at P16, majority of Schwann cells are arrested at promyelin stage of differentiation

abnormal myelination ( J:83739 )

Genotype
MGI:4359761

cn3

• Allelic Composition: Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr; Pou3f2^tm1Mejr/Pou3f2^tm1Mejr; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

nervous system

abnormal axon morphology ( J:83739 )

• at P56 and P120 (about 55% and 25%), respectively, of nerves are abnormal with many promyelin configurations

abnormal myelination ( J:83739 )

• at P16 nerves contain many promyelin configurations in contrast to wild type and heterozygotes in which >90% of large-caliber axons are myelinated

• at P56 and P120, abnormal axons are thinly myelinated resembling wild-type nerves during the first postnatal week