Phenotypes associated with this allele

• Allele Symbol: Emd^tm1Ykh
• Allele Name: targeted mutation 1, Yukiko K Hayashi
• Allele ID: MGI:3621049
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Emd^tm1Ykh/Emd^tm1Ykh	B6.129X1-Emd^tm1Ykh	MGI:3621424
ht2	Emd^tm1Ykh/Emd^+	B6.129X1-Emd^tm1Ykh	MGI:3621425
ot3	Emd^tm1Ykh/Y	B6.129X1-Emd^tm1Ykh	MGI:3621426

Genotype
MGI:3621424

hm1

• Allelic Composition: Emd^tm1Ykh/Emd^tm1Ykh
• Genetic Background: B6.129X1-Emd^tm1Ykh

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

behavior/neurological

impaired coordination ( J:106563 )

♀ • ability to remain suspended from a wire basket unimpaired

♀ • reduced ability to remain on a rotarod, 30% able to remain on rotarod for 10 min

muscle

abnormal myocardial fiber morphology ( J:106563 )

♀ • vacuoles bordering myonuclei in both atria and ventricles at 21 weeks of age and later but not at 1 week

♀ • number of vacuoles increases with age

♀ • irregularly shaped heterochromatin sometimes observed suggesting extrusion of nucleoplasm associated with disruption of nuclear membrane

abnormal skeletal muscle fiber morphology ( J:106563 )

♀ • vacuoles seen bordering myonuclei

♀ • skeletal muscle otherwise normal

cardiovascular system

abnormal myocardial fiber morphology ( J:106563 )

♀ • vacuoles bordering myonuclei in both atria and ventricles at 21 weeks of age and later but not at 1 week

♀ • number of vacuoles increases with age

♀ • irregularly shaped heterochromatin sometimes observed suggesting extrusion of nucleoplasm associated with disruption of nuclear membrane

prolonged PR interval ( J:106563 )

♀ • prolonged PR intervals in males as measured by limb-lead electrocardiogram but not seen in females or heterozygotes

Genotype
MGI:3621425

ht2

• Allelic Composition: Emd^tm1Ykh/Emd⁺
• Genetic Background: B6.129X1-Emd^tm1Ykh

behavior/neurological

impaired coordination ( J:106563 )

♀ • ability to remain suspended from a wire basket unimpaired

♀ • reduced ability to remain on a rotarod, 58% able to remain on rotarod for 10 min

Genotype
MGI:3621426

ot3

• Allelic Composition: Emd^tm1Ykh/Y
• Genetic Background: B6.129X1-Emd^tm1Ykh

behavior/neurological

impaired coordination ( J:106563 )

♂ • ability to remain suspended from a wire basket unimpaired

♂ • reduced ability to remain on a rotarod, 43% able to remain on rotarod for 10 min

muscle

abnormal myocardial fiber morphology ( J:106563 )

♂ • vacuoles bordering myonuclei in both atria and ventricles at 21 weeks of age and later but not at 1 week

♂ • number of vacuoles increases with age

♂ • irregularly shaped heterochromatin sometimes observed suggesting extrusion of nucleoplasm associated with disruption of nuclear membrane

abnormal skeletal muscle fiber morphology ( J:106563 )

♂ • vacuoles seen bordering myonuclei

♂ • skeletal muscle otherwise normal

cardiovascular system

abnormal myocardial fiber morphology ( J:106563 )

♂ • vacuoles bordering myonuclei in both atria and ventricles at 21 weeks of age and later but not at 1 week

♂ • number of vacuoles increases with age

♂ • irregularly shaped heterochromatin sometimes observed suggesting extrusion of nucleoplasm associated with disruption of nuclear membrane

prolonged PR interval ( J:106563 )

♂ • prolonged PR intervals in males as measured by limb-lead electrocardiogram but not seen in females or heterozygotes