Phenotypes associated with this allele

• Allele Symbol: Idh3a^em1Jkn
• Allele Name: endonuclease-mediated mutation 1, Ian J Jackson
• Allele ID: MGI:6355402
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Idh3a^em1Jkn/Idh3a^em1Jkn	involves: C57BL/6J	MGI:6358218
ht2	Idh3a^mpc201H/Idh3a^em1Jkn	involves: C57BL/6J	MGI:6358221

Genotype
MGI:6358218

hm1

• Allelic Composition: Idh3a^em1Jkn/Idh3a^em1Jkn
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:267900 )

• no embryos found at E10.5 and E12.5 and only the remains of developmentally delayed embryos at E8.5

Genotype
MGI:6358221

ht2

• Allelic Composition: Idh3a^mpc201H/Idh3a^em1Jkn
• Genetic Background: involves: C57BL/6J

vision/eye

increased susceptibility to age-related retinal degeneration ( J:267900 )

• loss of significant portion of nuclei in outer nuclear layer (ONL) at age P60, progressing further by P90

• significantly reduced a-wave response and flatline ERG trace at age P60

• normal retinal function at age P30 as determined by electroretinograms (ERGs)