Phenotypes Associated with This Genotype

Genotype
MGI:6360946

• Allelic Composition: Slc39a8^tm1.2Mrl/Slc39a8^tm1.2Mrl
• Genetic Background: B6(Cg)-Slc39a8^tm1.2Mrl

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:258360 )

• embryonic lethal by E16.5

cardiovascular system

abnormal heart morphology ( J:258360 )

• hearts exhibit extracellular matrix accumulation at E12.5

abnormal myocardial trabeculae morphology ( J:258360 )

• hearts exhibit hypertrabeculation, with a 24.9% increase at E12.5 and 44.2% increase at E14.5

thin myocardium compact layer ( J:258360 )

• hearts exhibit thin compact myocardium, with a 53.9% decrease in thickness at E12.5, and 72.7% decrease at E14.5

ventricular septal defect ( J:258360 )

abnormal heart left ventricle morphology ( J:258360 )

• hearts exhibit left ventricular noncompaction

increased fetal cardiomyocyte proliferation ( J:258360 )

• cardiomyocyte proliferation is increased in E12.5 hearts

• however, cardiomyocyte cell death is similar to wild-type levels

homeostasis/metabolism

edema ( J:258360 )

• some E14.5 mutants exhibit body edema

abnormal zinc level ( J:258360 )

• zinc levels are lower in E14.5 hearts

cellular

increased fetal cardiomyocyte proliferation ( J:258360 )

• cardiomyocyte proliferation is increased in E12.5 hearts

• however, cardiomyocyte cell death is similar to wild-type levels

muscle

abnormal myocardial trabeculae morphology ( J:258360 )

• hearts exhibit hypertrabeculation, with a 24.9% increase at E12.5 and 44.2% increase at E14.5

thin myocardium compact layer ( J:258360 )

• hearts exhibit thin compact myocardium, with a 53.9% decrease in thickness at E12.5, and 72.7% decrease at E14.5

increased fetal cardiomyocyte proliferation ( J:258360 )

• cardiomyocyte proliferation is increased in E12.5 hearts

• however, cardiomyocyte cell death is similar to wild-type levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:258360