Phenotypes associated with this allele

• Allele Symbol: Myh7^em1Dsr
• Allele Name: endonuclease-mediated mutation 1, Deepak Srivastava
• Allele ID: MGI:6360203
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myh7^em1Dsr/Myh7^em1Dsr	involves: C57BL/6J	MGI:6360218
ht2	Myh7^em1Dsr/Myh7^+	involves: C57BL/6J	MGI:6360219
cx3	Mrtfb^em1Dsr/Mrtfb^+ Myh7^em1Dsr/Myh7^+	involves: C57BL/6J	MGI:6360224
cx4	Mrtfb^em1Dsr/Mrtfb^+ Myh7^em1Dsr/Myh7^+ Nkx2-5^em1Dsr/Nkx2-5^+	involves: C57BL/6J	MGI:6360225

Genotype
MGI:6360218

hm1

• Allelic Composition: Myh7^em1Dsr/Myh7^em1Dsr
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:277399 )

• embryos die by E9.5 to E10 with evidence of heart failure

cardiovascular system

congestive heart failure ( J:277399 )

Genotype
MGI:6360219

ht2

• Allelic Composition: Myh7^em1Dsr/Myh7⁺
• Genetic Background: involves: C57BL/6J

normal phenotype

no abnormal phenotype detected ( J:277399 )

• no major phenotypic differences are seen compared to wild-type mice

Genotype
MGI:6360224

cx3

• Allelic Composition: Mrtfb^em1Dsr/Mrtfb⁺; Myh7^em1Dsr/Myh7⁺
• Genetic Background: involves: C57BL/6J

cardiovascular system

abnormal trabecula carnea morphology ( J:277399 )

• mild hypertrabeculation and apical recesses in P3 ventricular wall

muscle

abnormal trabecula carnea morphology ( J:277399 )

• mild hypertrabeculation and apical recesses in P3 ventricular wall

Genotype
MGI:6360225

cx4

• Allelic Composition: Mrtfb^em1Dsr/Mrtfb⁺; Myh7^em1Dsr/Myh7⁺; Nkx2-5^em1Dsr/Nkx2-5⁺
• Genetic Background: involves: C57BL/6J

cardiovascular system

abnormal trabecula carnea morphology ( J:277399 )

• mice exhibit deep trabeculations in the left ventricular wall at P3

• mice show a significant difference in trabecular complexity compared to controls

thin ventricular wall ( J:277399 )

• decrease in the apical wall thickness

• however, no changes in left ventricular free wall thickness

increased response of heart to induced stress ( J:277399 )

• mice exhibit a reduction in cardiac function after transverse aortic constriction compared to wild-type mice, with incomplete penetrance

• however, cardiac function by echocardiography is normal at baseline in adult mice

homeostasis/metabolism

increased response of heart to induced stress ( J:277399 )

• mice exhibit a reduction in cardiac function after transverse aortic constriction compared to wild-type mice, with incomplete penetrance

• however, cardiac function by echocardiography is normal at baseline in adult mice

muscle

abnormal trabecula carnea morphology ( J:277399 )

• mice exhibit deep trabeculations in the left ventricular wall at P3

• mice show a significant difference in trabecular complexity compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:277399