About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mrtfbem1Dsr
endonuclease-mediated mutation 1, Deepak Srivastava
MGI:6360207
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mrtfbem1Dsr/Mrtfbem1Dsr involves: C57BL/6J MGI:6360222
cx2
 		Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+ 		involves: C57BL/6J MGI:6360224
cx3
 		Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+
Nkx2-5em1Dsr/Nkx2-5+ 		involves: C57BL/6J MGI:6360225


Genotype
MGI:6360222
hm1
Allelic
Composition		 Mrtfbem1Dsr/Mrtfbem1Dsr
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mrtfbem1Dsr mutation (0 available); any Mrtfb mutation (68 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal heart ventricle morphology ( J:277399 )
• subtle abnormalities in the ventricular wall before the first week of life
• P4 mice show marked echogenic foci in the left ventricular cavity that are similar to those in patents with left ventricular noncompaction




Genotype
MGI:6360224
cx2
Allelic
Composition		 Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mrtfbem1Dsr mutation (0 available); any Mrtfb mutation (68 available)
Myh7em1Dsr mutation (0 available); any Myh7 mutation (96 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
cx3
Allelic
Composition		 Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+
Nkx2-5em1Dsr/Nkx2-5+
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mrtfbem1Dsr mutation (0 available); any Mrtfb mutation (68 available)
Myh7em1Dsr mutation (0 available); any Myh7 mutation (96 available)
Nkx2-5em1Dsr mutation (0 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory