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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smyd1tm1Dsr
targeted mutation 1, Deepak Srivastava
MGI:2179298
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smyd1tm1Dsr/Smyd1tm1Dsr involves: 129S6/SvEvTac MGI:2658756


Genotype
MGI:2658756
hm1
Allelic
Composition
Smyd1tm1Dsr/Smyd1tm1Dsr
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smyd1tm1Dsr mutation (1 available); any Smyd1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mutant embryos died by E10.5

cardiovascular system
N
• the atrium appeared unaffected, with normal amounts of extracellular matrix
• at E9.5, only a single left-side ventricular chamber was apparent
• this single ventricular chamber was directly connected to the outflow tract
• expression of Hand1, a left ventricular marker, appeared unaffected throughout the ventricular chamber
• at E9.5, homozygotes had an enlarged heart
• despite cardiac enlargement, the lumen of the heart was not dilated
• cardiac enlargement appeared to be secondary to a marked expansion of extracellular matrix or "cardiac jelly", between the myocardial and endocardial layers
• at E9.0, expression of Hand2, a right ventricular marker, was significantly downregulated, indicating the presence of a rudimentary, hypoplastic right ventricle
• formation of trabeculae was limited

cellular
• at E9.0, TUNEL analysis revealed apoptotic death in the anterior region of the mutant looping heart tube

embryo
• homozygous mutant embryos displayed growth retardation by E9.5

muscle
• formation of trabeculae was limited

growth/size/body
• at E9.5, homozygotes had an enlarged heart
• despite cardiac enlargement, the lumen of the heart was not dilated
• cardiac enlargement appeared to be secondary to a marked expansion of extracellular matrix or "cardiac jelly", between the myocardial and endocardial layers
• homozygous mutant embryos displayed growth retardation by E9.5





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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
04/23/2024
MGI 6.23
The Jackson Laboratory