Phenotypes associated with this allele

• Allele Symbol: Bud23^em1Asil
• Allele Name: endonuclease-mediated mutation 1, Andrew Loudon
• Allele ID: MGI:6690826
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bud23^em1Asil/Bud23^em1Asil	involves: C57BL/6 * DBA/2	MGI:6693472
ht2	Bud23^em1Asil/Bud23^+	involves: C57BL/6 * DBA/2	MGI:6693475

Genotype
MGI:6693472

hm1

• Allelic Composition: Bud23^em1Asil/Bud23^em1Asil
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

embryonic lethality, complete penetrance ( J:290738 )

• following heterozygous intercrosses, no viable homozygotes are recovered at E10.5 or at weaning age

Genotype
MGI:6693475

ht2

• Allelic Composition: Bud23^em1Asil/Bud23⁺
• Genetic Background: involves: C57BL/6 * DBA/2

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:290738 )

• although heterozygotes are present at expected Mendelian ratios at E10.5, only about half the expected heterozygote birth rate is observed

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:290738 )

N • adult heterozygous exhibit no differences in energy expenditure or respiratory exchange ratio relative to wild-type controls

N • no significant difference in mitochondrial respiratory capacity is noted across any mitochondrial state (LEAK, OXPHOS, ETS), whether normalized to citrate synthase activity or protein content

abnormal enzyme/coenzyme activity ( J:290738 )

• heterozygotes exhibit significantly higher citrate synthase activities in cardiac homogenates, indicating greater cardiac mitochondrial density

cellular

increased mitochondrial number ( J:290738 )

• heterozygotes exhibit significantly higher citrate synthase activities in cardiac homogenates, indicating greater cardiac mitochondrial density

abnormal oxidative phosphorylation ( J:290738 )

♂ • when mitochondrial respiration is normalized to citrate synthase activity, male heterozygotes show a deficiency in OXPHOS and ETS (maximal respiration rate) relative to wild-type controls, whereas female mice do not

growth/size/body

growth/size/body region phenotype ( J:290738 )

N • surviving adult heterozygous exhibit normal body composition in terms of body weight, lean body weight or body fat relative to wild-type controls