Phenotypes associated with this allele

• Allele Symbol: Xlch
• Allele Name: X-linked cardiac hypertrophy
• Allele ID: MGI:3797607
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Xlch/Xlch^+	involves: C3H/HeJ * C57BL/6J	MGI:3797747
ot2	Xlch/?	C57BL/6J-Xlch	MGI:3797627

Genotype
MGI:3797747

ht1

• Allelic Composition: Xlch/Xlch⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:136798 )

♀ • some fetuses died at birth

cardiovascular system

cardiac hypertrophy ( J:136798 )

♀ • fetuses that die at birth show severe cardiac hypertrophy

♀ • some adults have cardiac hypertrophy at 7 months

growth/size/body

cardiac hypertrophy ( J:136798 )

♀ • fetuses that die at birth show severe cardiac hypertrophy

♀ • some adults have cardiac hypertrophy at 7 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dilated cardiomyopathy		DOID:0110461	OMIM:302045	J:136798

Genotype
MGI:3797627

ot2

• Allelic Composition: Xlch/?
• Genetic Background: C57BL/6J-Xlch

mortality/aging

premature death ( J:136798 )

• some adult mice died suddenly and were fount to have concentric left ventricle hypertrophy

neonatal lethality, incomplete penetrance ( J:136798 )

• some fetuses died at birth

cardiovascular system

abnormal myocardial fiber morphology ( J:136798 )

• some myofiber showed enlarged nuclei, abnormal vacuolization

• a marked increase in mitochondria and accumulation of lipid droplets

abnormal ventricle papillary muscle morphology ( J:136798 )

• hypertrophied papillary muscles

disorganized myocardium ( J:136798 )

increased heart weight ( J:136798 )

• significant increased heart weights, as well as increased heart-to-body weight ratio

cardiac hypertrophy ( J:136798 )

• fetuses died at birth show severe cardiac hypertrophy

heart left ventricle hypertrophy ( J:136798 )

• some adult mice died suddenly and were found to have concentric left ventricle hypertrophy

thick aortic valve cusps ( J:136798 )

• thickened aortic valve leaflets with poor opening

aortic valve stenosis ( J:136798 )

• described as poor opening

thick ventricular wall ( J:136798 )

• in some adult animals showing symptoms of LVH cardiomyopathy

cardiac interstitial fibrosis ( J:136798 )

increased cardiac muscle contractility ( J:136798 )

• in some adult animals showing symptoms of LVH cardiomyopathy

muscle

abnormal myocardial fiber morphology ( J:136798 )

• some myofiber showed enlarged nuclei, abnormal vacuolization

• a marked increase in mitochondria and accumulation of lipid droplets

abnormal ventricle papillary muscle morphology ( J:136798 )

• hypertrophied papillary muscles

disorganized myocardium ( J:136798 )

heart left ventricle hypertrophy ( J:136798 )

• some adult mice died suddenly and were found to have concentric left ventricle hypertrophy

increased cardiac muscle contractility ( J:136798 )

• in some adult animals showing symptoms of LVH cardiomyopathy

dilated sarcoplasmic reticulum ( J:136798 )

• a marked enlargement of the SR and large perinuclear vacuoles

growth/size/body

increased heart weight ( J:136798 )

• significant increased heart weights, as well as increased heart-to-body weight ratio

cardiac hypertrophy ( J:136798 )

• fetuses died at birth show severe cardiac hypertrophy

heart left ventricle hypertrophy ( J:136798 )

• some adult mice died suddenly and were found to have concentric left ventricle hypertrophy

cellular

cardiac interstitial fibrosis ( J:136798 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dilated cardiomyopathy		DOID:0110461	OMIM:302045	J:136798