Phenotypes associated with this allele

• Allele Symbol: Apex1^tm1Ecf
• Allele Name: targeted mutation 1, Errol C Friedberg
• Allele ID: MGI:2652193
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Apex1^tm1Ecf/Apex1^tm1Ecf	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)	MGI:3576492
ht2	Apex1^tm1Ecf/Apex1^+	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)	MGI:2652224
cx3	Apex1^tm1Ecf/Apex1^+ Xpc^tm1Ecf/Xpc^tm1Ecf	involves: 129	MGI:2652241

Genotype
MGI:3576492

hm1

• Allelic Composition: Apex1^tm1Ecf/Apex1^tm1Ecf
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * 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:70397 )

• embryos undetected at E7.5

• maternal antioxidant-enriched diet did not rescue lethality or increase the life expectancey of the embryos

Genotype
MGI:2652224

ht2

• Allelic Composition: Apex1^tm1Ecf/Apex1⁺
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)

mortality/aging

prenatal lethality, incomplete penetrance ( J:70397 )

• fewer offspring than expected by Mendelian ratios, reduction was not statistically significant

• maternal antioxidant-enriched diet increased embryonic survival

cellular

abnormal cell death ( J:70397 )

• sensitivity to inducers of oxygen-mediated DNA damage

decreased cellular sensitivity to ultraviolet irradiation ( J:70397 )

• resistant to cell death induced by UV radiation

increased cellular sensitivity to oxidative stress ( J:70397 )

• increased sensitivity to oxidative stress

• elevated levels of oxidative markers in serum

• antioxidant-enriched diet restores serum oxidative marker levels to those of wild-type

neoplasm

increased tumor incidence ( J:70397 )

• 25% developed microscopic tumors

increased lymphoma incidence ( J:70397 )

increased carcinoma incidence ( J:70397 )

increased sarcoma incidence ( J:70397 )

immune system

heart inflammation ( J:70397 )

myocarditis ( J:70397 )

pericarditis ( J:70397 )

cardiovascular system

cardiac fibrosis ( J:70397 )

• myocardial fibrosis

heart inflammation ( J:70397 )

myocarditis ( J:70397 )

pericarditis ( J:70397 )

Genotype
MGI:2652241

cx3

• Allelic Composition: Apex1^tm1Ecf/Apex1⁺; Xpc^tm1Ecf/Xpc^tm1Ecf
• Genetic Background: involves: 129

neoplasm

increased tumor incidence ( J:70397 )

• 16% developed microscopic tumors

cellular

oxidative stress ( J:70397 )

• increased sensitivity to oxidative stress