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Phenotypes Associated with This Genotype
Genotype
MGI:2677273
Allelic
Composition
Mesttm1Masu/Mest+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mesttm1Masu mutation (0 available); any Mest mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• increased perinatal lethality when mutant allele inherited paternally
• reduced growth during the first week of life, after which mutant mice grew in parallel to wild-type mice when mutant allele inherited paternally

cardiovascular system
• increased thickness and reduced density of compact myocardium when mutat allele inherited paternally, similar to that seen in human cardiomyopathy ventricular noncompaction
• subtle alteration in the pattern of trabeculation when mutant allele inherited paternally

behavior/neurological
• parturient females exhibited reduced placentophagic behavior (ingestion of extraembryonic tissues) when mutant allele inherited paternally
• the failure to retrieve pups was not associated with impaired olfactory function when mutant allele inherited paternally

muscle
• increased thickness and reduced density of compact myocardium when mutat allele inherited paternally, similar to that seen in human cardiomyopathy ventricular noncompaction
• subtle alteration in the pattern of trabeculation when mutant allele inherited paternally

embryo
• although reduced in size the structures of the spongiotrophoblast and labyrinthine trophoblast were normal when mutant allele inherited paternally
• placental weights were 86.4% those of wild-type when mutant allele inherited paternally

growth/size/body
• average weight was 65% that of wild-type at 7 days of age when mutant allele inherited paternally
• fetuses were signficantly smaller than wild-type at E18.5 when mutant allele inherited paternally
• fetal weights were 87.5% those of wild-type when mutant allele inherited paternally
• fetal weights were 87.5% those of wild-type when mutant allele inherited paternally

skeleton
N
• no skeletal abnormalities detected identified by x-ray radiograms when mutant allele inherited paternally

cellular

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Barth syndrome DOID:0050476 OMIM:302060
J:79223


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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory