Phenotypes associated with this allele

• Allele Symbol: n-TUtca2^tm1Mmt
• Allele Name: targeted mutation 1, Makoto M Taketo
• Allele ID: MGI:2181883
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	n-TUtca2^tm1Mmt/n-TUtca2^tm1Mmt	either: B6.129S2-Trnau1^tm1Mmt or (involves: 129S2/SvPas * MCH)	MGI:2655300
ht2	n-TUtca2^tm1Mmt/n-TUtca2^+	either: B6.129S2-Trnau1^tm1Mmt or (involves: 129S2/SvPas * MCH)	MGI:3834261

Genotype
MGI:2655300

hm1

• Allelic Composition: n-TUtca2^tm1Mmt/n-TUtca2^tm1Mmt
• Genetic Background: either: B6.129S2-Trnau1^tm1Mmt or (involves: 129S2/SvPas * MCH)

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:40911 )

• homozygous mutant embryos die shortly after implantation and are resorbed by E6.5

• however, when placed in culture, most preimplantation mutant embryos display normal trophoblast outgrowths and inner cell mass proliferation relative to wild-type embryos

Genotype
MGI:3834261

ht2

• Allelic Composition: n-TUtca2^tm1Mmt/n-TUtca2⁺
• Genetic Background: either: B6.129S2-Trnau1^tm1Mmt or (involves: 129S2/SvPas * MCH)

normal phenotype

no abnormal phenotype detected ( J:40911 )

• heterozygotes are viable, fertile, and overtly normal

• interestingly, although the level of tRNA^Sec is reduced to ~50%-80% of the wild type in most organs, one of the selenoproteins, glutathione peroxidase, displays normal levels of mRNA, protein, and enzyme activity, indicating that haploinsufficiency is not rate-limiting for its biosynthesis in the liver