MMPC :: Experiment

Experiment

Assessment of mm77 mice by echocardiography, electrophysiology, and gross
necropsy

Summary

Data Summary

Investigator	Dickel, Diane
Description	This study seeks to assess how noncoding regulatory variants regulate the expression of genes implicated in hypertrophic cardiomyopathy. Currently, ~40% of familial HCM cannot be explained by coding sequence variation, so understanding the phenotypic consequences of deleting noncoding regulatory variants of known HCM genes may identify additional genomic locations that harbor HCM mutations in human patients. Preliminary Phenotype Heterozygous and homozygous null mice appear outwardly normal, but they have an ~40% and 80% reduction in Myl2 gene expression, respectively, relative to wild-type mice. Heterozygous x heterozygous crosses produce wild-type, heterozygous, and homozygous null mice in expected Mendelian frequencies. However, litters resulting from these crosses tend to be very small, and approximately 25% of embryos from these crosses appear to be resorbed during embryogenesis, suggesting that the mothers may be unable to provide sufficient blood flow to support larger litter sizes. Homozygous females, but not males, may show cardiac hypertrophy, but this observation is currently based on a very small number of samples.
Status	Completed
Public Release	5/17/2021
Animal Age	Measured In: week(s) post-natal (w)
Flags

Data Analysis

DOWNLOAD ALL DATA (.csv)

Animals

Strain Name	Common Name	Females	Males	Unknown
B6;129S6	B6;129S6	5	0	0
B6;129S6-Rr34^tm1.1Lap	B6;129S6-mm77^tm1.1Lap	5	0	0

Animals/Strains

Experimental Factors

	Categorical Values
	Name / Abbreviation	Description
	Experimental Factor: Experimental Group
	Control	This animal belongs to the control group for the experiment.
	Experiment	This animal belongs to experimental group that is homozygous for gene manipulations.
	Experimental Factor: Tissue Source
	body	body
	heart	heart
	kidney	kidney
	liver	liver
	spleen	spleen

Experimental Factor (Units)
Experimental Group
Tissue Source

Experimental Factor Values

Phenotype Assays Add / Edit

Name	Abbreviation
fractional shortening	fractional shortening
heart rate	HR
left ventricle chamber diameter end diastolic	left ventricle chamber diameter end diastolic
left ventricle chamber diameter end systolic	left ventricle chamber diameter end systolic
left ventricle posterior wall thickness end diastolic	LVPWT-end diastolic
total body weight	total body weight
left ventricle mass	left ventricle mass
total tissue mass	TTM
left ventricle anterior wall thickness, end diastolic	LVAWT-end diastolic

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