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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mtfmtem1Heb
endonuclease-mediated mutation 1, Bin He
MGI:7704181
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mtfmtem1Heb/Mtfmtem1Heb C57BL/6-Mtfmtem1Heb MGI:7704183
ht2
 		Mtfmtem1Heb/Mtfmt+ C57BL/6-Mtfmtem1Heb MGI:7704188


Genotype
MGI:7704183
hm1
Allelic
Composition		 Mtfmtem1Heb/Mtfmtem1Heb
Genetic
Background		 C57BL/6-Mtfmtem1Heb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtfmtem1Heb mutation (0 available); any Mtfmt mutation (18 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

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		 Mtfmtem1Heb/Mtfmt+
Genetic
Background		 C57BL/6-Mtfmtem1Heb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtfmtem1Heb mutation (0 available); any Mtfmt mutation (18 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
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 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 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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory