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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bud23em1Asil
endonuclease-mediated mutation 1, Andrew Loudon
MGI:6690826
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bud23em1Asil/Bud23em1Asil involves: C57BL/6 * DBA/2 MGI:6693472
ht2
Bud23em1Asil/Bud23+ involves: C57BL/6 * DBA/2 MGI:6693475


Genotype
MGI:6693472
hm1
Allelic
Composition
Bud23em1Asil/Bud23em1Asil
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bud23em1Asil mutation (0 available); any Bud23 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• following heterozygous intercrosses, no viable homozygotes are recovered at E10.5 or at weaning age




Genotype
MGI:6693475
ht2
Allelic
Composition
Bud23em1Asil/Bud23+
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bud23em1Asil mutation (0 available); any Bud23 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although heterozygotes are present at expected Mendelian ratios at E10.5, only about half the expected heterozygote birth rate is observed

homeostasis/metabolism
N
• adult heterozygous exhibit no differences in energy expenditure or respiratory exchange ratio relative to wild-type controls
• 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
• heterozygotes exhibit significantly higher citrate synthase activities in cardiac homogenates, indicating greater cardiac mitochondrial density

cellular
• heterozygotes exhibit significantly higher citrate synthase activities in cardiac homogenates, indicating greater cardiac mitochondrial density
• 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
N
• surviving adult heterozygous exhibit normal body composition in terms of body weight, lean body weight or body fat relative to wild-type controls





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory