Phenotypes associated with this allele

• Allele Symbol: Pmm2^tm1Cthl
• Allele Name: targeted mutation 1, Christian Thiel
• Allele ID: MGI:3663170
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmm2^tm1Cthl/Pmm2^tm1Cthl	involves: 129P2/OlaHsd * C57BL/6	MGI:3663258

Genotype
MGI:3663258

hm1

• Allelic Composition: Pmm2^tm1Cthl/Pmm2^tm1Cthl
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:111420 )

• no homozygotes are observed after birth: genotyping of embryos on E9.5, 12.5 and 15.5 showed no homozygotes and only 3/33 E3.5 blastocysts genotyped as Pmm2-null, while E2.5 fertilized eggs, 3/33 were homozygous compared to 16 wild-type and 14 heterozygous eggs

cellular

maternal effect ( J:111420 )

• when heterozygous males are bred with wild-type females, 52% of offspring are wild-type and 48% are heterozygous; however when the female is heterozygous, there is a 4:1 ratio of wild-type to heterozygotes indicating impairment in maternal transmission of Pmm2^tm1Cthl