Phenotypes associated with this allele

• Allele Symbol: Upf1^tm1Hcd
• Allele Name: targeted mutation 1, Harry C Dietz
• Allele ID: MGI:2386175
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Upf1^tm1Hcd/Upf1^tm1Hcd	involves: 129X1/SvJ * C57BL/6	MGI:3039041

Genotype
MGI:3039041

hm1

• Allelic Composition: Upf1^tm1Hcd/Upf1^tm1Hcd
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:67076 )

• homozygous null mice were under-represented at 6.5 dpc and never observed at or after 7.5 dpc

• homozygous null mice were viable in the pre-implantation period but resorbed shortly after implantation

embryo

abnormal embryo development ( J:67076 )

• 30% of 5.5 dpc homozygous null embryos displayed complete loss of architecture with a high number of pyknotic cells showing karyorrhexis and karyolysis

• pre-implantation embryos displayed a complete absence of nonsense-mediated mRNA decay (NMD), which is thought to protect organisms by preventing the translation of aberrant (truncated) proteins with dominant negative or gain-of-function activities

cellular

increased apoptosis ( J:67076 )

• homozygous null blastocysts isolated at 3.5 dpc underwent apoptosis in culture following a short phase of cellular expansion

reproductive system

empty decidua capsularis ( J:67076 )

♀ • an empty decidua was observed at 28% of implantation sites at 7.0-8.0 dpc