Phenotypes associated with this allele

• Allele Symbol: Angel2^em1Gpt
• Allele Name: endonuclease-mediated mutation 1, GemPharmatech Co., Ltd
• Allele ID: MGI:7309788
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Angel2^em1Gpt/Angel2^em1Gpt	C57BL/6N-Angel2^em1Gpt	MGI:7432682

Genotype
MGI:7432682

hm1

• Allelic Composition: Angel2^em1Gpt/Angel2^em1Gpt
• Genetic Background: C57BL/6N-Angel2^em1Gpt

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

cellular

abnormal respiratory electron transport chain ( J:332461 )

• heart mitochondria from 16-week-old mice exhibit an isolated deficiency in mitochondrial electron transport complex I (NADH:ubiquinone oxidoreductase) activity

abnormal oxidative phosphorylation ( J:332461 )

• proteomic analysis of 16-week-old hearts revealed mitochondrial dysfunction likely caused by reduced OXPHOS subunit levels

abnormal translation ( J:332461 )

• heart and liver mitochondria from 16-week-old mice show an alteration in de novo translation, with ND5 (mitochondrially encoded NADH dehydrogenase 5) slightly upregulated, probably due to increased mt:Nd5 transcript levels

• however, the impact is mild, suggesting that adequate translation can still occur even in the absence of a STOP codon and poly(A) tail

homeostasis/metabolism

abnormal metabolism ( J:332461 )

• mitochondrial mRNA steady-state levels of mt:Atp8/6 and mt:Nd5 (which require non-canonical processing i.e. not separated by tRNAs) are significantly upregulated in the heart and liver of 16-week-old mice, whereas mt:tRNA levels remain mostly unchanged

• non-canonical transcripts mt:Nd5 and mt:Atp8/6 show a decreased mitochondrial poly(A) tail (MPAT) length in heart samples, whereas MPAT length is unaffected in canonically processed transcripts (mt:Nd4l/4 and mt:Nd2)

• pre-treatment with either calf-intestinal phosphatase (CIP) or polynucleotide kinase (PNK) followed by MPAT length assays showed accumulation of non-polyadenylated 3 phosphates on mt:Nd5 and mt:Atp8/6 in heart, liver, skeletal muscle and kidney samples, suggesting that ANGEL2 phosphatase activity is required for their hydrolysis and the maturation of mRNAs that undergo non-canonical processing

abnormal translation ( J:332461 )

• heart and liver mitochondria from 16-week-old mice show an alteration in de novo translation, with ND5 (mitochondrially encoded NADH dehydrogenase 5) slightly upregulated, probably due to increased mt:Nd5 transcript levels

• however, the impact is mild, suggesting that adequate translation can still occur even in the absence of a STOP codon and poly(A) tail

mortality/aging

mortality/aging ( J:332461 )

N • mice are born at normal Mendelian proportions and survive to at least 15 months of age without apparent external phenotypes