Phenotypes associated with this allele

• Allele Symbol: Mtfmt^em1Heb
• Allele Name: endonuclease-mediated mutation 1, Bin He
• Allele ID: MGI:7704181
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mtfmt^em1Heb/Mtfmt^em1Heb	C57BL/6-Mtfmt^em1Heb	MGI:7704183
ht2	Mtfmt^em1Heb/Mtfmt^+	C57BL/6-Mtfmt^em1Heb	MGI:7704188

Genotype
MGI:7704183

hm1

• Allelic Composition: Mtfmt^em1Heb/Mtfmt^em1Heb
• Genetic Background: C57BL/6-Mtfmt^em1Heb

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

mortality/aging

embryonic lethality, complete penetrance ( J:334467 )

• die by E13.5

embryo

embryonic growth retardation ( J:334467 )

• significant developmental delay at E13.5

cellular

abnormal mitochondrial shape ( J:334467 )

• shortened ridges and ruptured membranes in embryos

dilated mitochondrion ( J:334467 )

• mitochondrial swelling in embryos

abnormal mitochondrial physiology ( J:334467 )

• reduced mitochondrial protein translation

growth/size/body

embryonic growth retardation ( J:334467 )

• significant developmental delay at E13.5

Genotype
MGI:7704188

ht2

• Allelic Composition: Mtfmt^em1Heb/Mtfmt⁺
• Genetic Background: C57BL/6-Mtfmt^em1Heb

homeostasis/metabolism

decreased circulating interleukin-1 beta level ( J:334467 )

♂

decreased circulating alanine transaminase level ( J:334467 )

♂

abnormal glucose homeostasis ( J:334467 )

♂

improved glucose tolerance ( J:334467 )

♂ • slight but significant increase in glucose clearance in a glucose tolerance test in males at 23 weeks of age

♂ • glucose tolerance is improved in mice on a high fat diet compared to diet matched wild-type controls

increased insulin sensitivity ( J:334467 )

♂ • in males fed a high fat diet compared to diet matched wild-type controls

♂ • however, insulin tolerance is similar to wild-type controls on a normal chow diet

decreased triglyceride level ( J:334467 )

♂

decreased circulating triglyceride level ( J:334467 )

♂

decreased liver triglyceride level ( J:334467 )

♂ • in males on a normal chow or high fat diet compared to diet matched wild-type controls

adipose tissue

decreased subcutaneous adipose tissue amount ( J:334467 )

♂ • in males fed a high fat diet compared to diet matched wild-type controls

decreased epididymal fat pad weight ( J:334467 )

♂ • in males fed a high fat diet compared to diet matched wild-type controls

immune system

decreased circulating interleukin-1 beta level ( J:334467 )

♂

decreased inflammatory response ( J:334467 )

♂ • decrease in markers of high fat diet induced inflammation (IL1B, IL6, and TNF) in livers and epididymal fat in males compared to diet matched controls

liver/biliary system

abnormal liver morphology ( J:334467 )

♂ • reduced liver lipid deposition

decreased liver triglyceride level ( J:334467 )

♂ • in males on a normal chow or high fat diet compared to diet matched wild-type controls

abnormal liver physiology ( J:334467 )

♂ • lower malondialdehyde levels in males on a high fat diet compared to diet matched controls

♂ • decrease in markers of high fat diet induced inflammation (IL1B, IL6, and TNF) in livers in males compared to diet matched controls

cellular

dilated mitochondrion ( J:334467 )

• slightly swollen in embryos

integument

decreased subcutaneous adipose tissue amount ( J:334467 )

♂ • in males fed a high fat diet compared to diet matched wild-type controls