Phenotypes associated with this allele

• Allele Symbol: Sdhaf2^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:5904343
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sdhaf2^em1(IMPC)J/Sdhaf2^em1(IMPC)J	C57BL/6NJ-Sdhaf2^em1(IMPC)J/Mmjax	MGI:6263440

Genotype
MGI:6263440

hm1

• Allelic Composition: Sdhaf2^em1(IMPC)J/Sdhaf2^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Sdhaf2^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Sdhaf2

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

Sdhaf2^em1(IMPC)J/Sdhaf2^em1(IMPC)J mice exhibit embryonic lethality, with embryos recovered at E7.5 but not at E9.5. Embryos are smaller and form a rudimentary egg cylinder but no primitive streak or hallmarks of gastrulation are seen at E7.5.

embryo

failure to gastrulate ( J:290315 , J:279207 )

• no morphological hallmarks typical of gastrulating embryos are observed at E7.5 (J:279207)

embryonic growth arrest ( J:279207 )

• embryos arrest prior to gastrulation

decreased embryo size ( J:279207 )

• embryos are much smaller than controls at E7.5

abnormal egg cylinder morphology ( J:279207 )

• a rudimentary egg cylinder is observed at E7.5

absent head fold ( J:279207 )

• no head folds are present at E7.5

absent primitive node ( J:279207 )

• no embryonic node is present at E7.5

failure of primitive streak formation ( J:279207 )

• no morphological evidence of primitive streak formation is observed at E7.5

growth/size/body

decreased embryo size ( J:279207 )

• embryos are much smaller than controls at E7.5

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality between implantation and placentation, complete penetrance ( J:279207 )

• homozygous embryos are recovered at E7.5 (19% versus expected 25%, n=27) and arrest prior to gastrulation; no homozygous embryos are recovered at E9.5