Phenotypes Associated with This Genotype

Genotype
MGI:2677273

• Allelic Composition: Mest^tm1Masu/Mest⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:50170 )

• increased perinatal lethality when mutant allele inherited paternally

postnatal lethality, incomplete penetrance ( J:50170 )

• 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

abnormal myocardium layer morphology ( J:79223 )

• increased thickness and reduced density of compact myocardium when mutat allele inherited paternally, similar to that seen in human cardiomyopathy ventricular noncompaction

abnormal myocardial trabeculae morphology ( J:79223 )

• subtle alteration in the pattern of trabeculation when mutant allele inherited paternally

behavior/neurological

abnormal maternal nurturing ( J:50170 )

♀ • parturient females exhibited reduced placentophagic behavior (ingestion of extraembryonic tissues) when mutant allele inherited paternally

abnormal pup retrieval ( J:50170 )

♀ • the failure to retrieve pups was not associated with impaired olfactory function when mutant allele inherited paternally

muscle

abnormal myocardium layer morphology ( J:79223 )

• increased thickness and reduced density of compact myocardium when mutat allele inherited paternally, similar to that seen in human cardiomyopathy ventricular noncompaction

abnormal myocardial trabeculae morphology ( J:79223 )

• subtle alteration in the pattern of trabeculation when mutant allele inherited paternally

embryo

small placenta ( J:50170 )

• although reduced in size the structures of the spongiotrophoblast and labyrinthine trophoblast were normal when mutant allele inherited paternally

decreased placenta weight ( J:50170 )

• placental weights were 86.4% those of wild-type when mutant allele inherited paternally

growth/size/body

decreased body weight ( J:50170 )

• average weight was 65% that of wild-type at 7 days of age when mutant allele inherited paternally

decreased fetal size ( J:50170 )

• 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

decreased fetal weight ( J:50170 )

• fetal weights were 87.5% those of wild-type when mutant allele inherited paternally

skeleton

skeleton phenotype ( J:50170 )

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

cellular

maternal imprinting ( J:50170 , J:79223 )

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