Phenotypes associated with this allele

• Allele Symbol: Mypn^tm1.1Epu
• Allele Name: targeted mutation 1.1, Enkhsaikhan Purevjav
• Allele ID: MGI:5910326
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mypn^tm1.1Epu/Mypn^tm1.1Epu	either: (involves: 129S6/SvEv) or (involves: 129S6/SvEv * C57BL/6NCrl)	MGI:5910330
hm2	Mypn^tm1.1Epu/Mypn^tm1.1Epu	involves: 129S6/SvEvTac	MGI:6283403
ht3	Mypn^tm1.1Epu/Mypn^+	either: (involves: 129S6/SvEv) or (involves: 129S6/SvEv * C57BL/6NCrl)	MGI:5910329

Genotype
MGI:5910330

hm1

• Allelic Composition: Mypn^tm1.1Epu/Mypn^tm1.1Epu
• Genetic Background: either: (involves: 129S6/SvEv) or (involves: 129S6/SvEv * C57BL/6NCrl)

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

normal phenotype

no abnormal phenotype detected ( J:243710 )

• mice have no or a minimal phenotype

Genotype
MGI:6283403

hm2

• Allelic Composition: Mypn^tm1.1Epu/Mypn^tm1.1Epu
• Genetic Background: involves: 129S6/SvEvTac

muscle

abnormal Z line morphology ( J:248575 )

• electron microscopic analysis of skeletal muscles revealed mild Z-line streaming and thickening as well as small nemaline-like bodies adjacent to disorganized Z-lines, unlike in wild-type and heterozygous control mice

myopathy ( J:248575 )

• at 3 months of age, homozygotes exhibit mild nemaline-like myopathy, as suggested by Z-line abnormalities

• however, no muscle weakness is observed at this age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 11		DOID:0110933	OMIM:617336	J:248575

Genotype
MGI:5910329

ht3

• Allelic Composition: Mypn^tm1.1Epu/Mypn⁺
• Genetic Background: either: (involves: 129S6/SvEv) or (involves: 129S6/SvEv * C57BL/6NCrl)

cardiovascular system

abnormal myocardial fiber morphology ( J:243710 )

• t-tubules are enlarged and cell-cell junctions are widened with excess convolutions

• focal loss of myofibrils

abnormal intercalated disk morphology ( J:243710 )

• mild intercalated disc disruption

abnormal heart atrium morphology ( J:243710 )

• the left atrial cross-sectional area is increased

abnormal heart left ventricle morphology ( J:243710 )

• the sphericity index, the ratio of the short-to long-axis dimensions of the left ventricle, is lower

cardiac interstitial fibrosis ( J:243710 )

• diffuse interstitial and perivascular fibrosis in the ventricular myocardium

• however, cardiomyocyte hypertrophy is not seen

abnormal cardiac muscle relaxation ( J:243710 )

• mice exhibit diastolic dysfunction with preserved systolic function by 12 weeks of age

abnormal heart echocardiography feature ( J:243710 )

• mice exhibit increased early (E) and late (A) diastolic velocities (E/A) ratio at 6 and 12 weeks of age and signs of impaired diastolic filling of the left ventricle including decreased end-diastolic volume and internal dimensions

irregular heartbeat ( J:243710 )

• 27.6% of mice exhibit arrhythmias, including premature atrial contractions, premature ventricular contractions, and type II second-degree atrioventricular block

atrioventricular block ( J:243710 )

• 3.4% of mice exhibit type II second-degree atrioventricular block

abnormal T wave ( J:243710 )

• T-wave duration is decreased

• however, heart rate, pulse, pulse rate, and QRS durations are normal

muscle

abnormal myocardial fiber morphology ( J:243710 )

• t-tubules are enlarged and cell-cell junctions are widened with excess convolutions

• focal loss of myofibrils

abnormal intercalated disk morphology ( J:243710 )

• mild intercalated disc disruption

abnormal cardiac muscle relaxation ( J:243710 )

• mice exhibit diastolic dysfunction with preserved systolic function by 12 weeks of age

cellular

cardiac interstitial fibrosis ( J:243710 )

• diffuse interstitial and perivascular fibrosis in the ventricular myocardium

• however, cardiomyocyte hypertrophy is not seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restrictive cardiomyopathy		DOID:397	OMIM:115210 OMIM:PS115210	J:243710