Phenotypes associated with this allele

• Allele Symbol: Hey1^tm1Kkb
• Allele Name: targeted mutation 1, Hiroki Kokubo
• Allele ID: MGI:3574059
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hey1^tm1Kkb/Hey1^tm1Kkb	involves: 129S7/SvEvBrd	MGI:5302520
cn2	Hey1^tm1Kkb/Hey1^tm1Kkb Mesp1^tm2(cre)Ysa/Mesp1^+ Tg(CAG-cat,-Notch1)1Ysa/0	involves: 129S7/SvEvBrd * C3H * C57BL/6 * CBA	MGI:3702490
cx3	Hey1^tm1Kkb/Hey1^tm1Kkb Heyl^tm1Kkb/Heyl^tm1Kkb	B6.Cg-Hey1^tm1Kkb Heyl^tm1Kkb	MGI:5302522
cx4	Hey1^tm1Kkb/Hey1^tm1Kkb Hey2^tm1Kkb/Hey2^tm1Kkb	involves: 129S7/SvEvBrd * C57BL/6	MGI:3574774
cx5	Hey1^tm1Kkb/Hey1^tm1Kkb Heyl^tm1Kkb/Heyl^tm1Kkb	involves: 129S7/SvEvBrd * C57BL/6	MGI:5302521

Genotype
MGI:5302520

hm1

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb
• Genetic Background: involves: 129S7/SvEvBrd

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

muscle

muscle phenotype ( J:178310 )

N • skeletal muscle weight as a proportion of total body weight is similar to wild-type controls

Genotype
MGI:3702490

cn2

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Mesp1^tm2(cre)Ysa/Mesp1⁺; Tg(CAG-cat,-Notch1)1Ysa/0
• Genetic Background: involves: 129S7/SvEvBrd * C3H * C57BL/6 * CBA

cardiovascular system

abnormal myocardial trabeculae morphology ( J:108444 )

• mutants exhibit impaired ventricular trabeculation, however there is much less trabeculation of the atrioventricular myocardium compared with mutants that are not null for Hey1

abnormal atrioventricular cushion morphology ( J:108444 )

• mutants exhibit ectopic appearance of cell masses in the atrioventricular cushion

abnormal interventricular septum morphology ( J:108444 )

• the interventricular septum is shifted to the right side

muscle

abnormal myocardial trabeculae morphology ( J:108444 )

• mutants exhibit impaired ventricular trabeculation, however there is much less trabeculation of the atrioventricular myocardium compared with mutants that are not null for Hey1

Genotype
MGI:5302522

cx3

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Heyl^tm1Kkb/Heyl^tm1Kkb
• Genetic Background: B6.Cg-Hey1^tm1Kkb Heyl^tm1Kkb

mortality/aging

postnatal lethality, incomplete penetrance ( J:178310 )

• Background Sensitivity: less than 5% of pups on an inbred C57BL/6 (N9) background survive the first 3 weeks of life compared to about 90% of pups on a mixed (N2) background

• survival is better in the N7 generation compared to the F9 generation

muscle

abnormal skeletal muscle satellite cell proliferation ( J:178310 )

• expression analysis indicates satellite cells are not in an undifferentiated quiescent state in adult skeletal muscle in mice from the N7 generation

decreased muscle weight ( J:178310 )

• decrease in muscle weight and muscle weight as a proportion of body weight in mice from the N7 generation compared to littermate controls

abnormal skeletal muscle morphology ( J:178310 )

• satellite cells are slightly larger in mice from the N7 generation compared to littermate controls

decreased skeletal muscle fiber size ( J:178310 )

• in mice from the N7 generation compared to littermate controls

decreased skeletal muscle fiber number ( J:178310 )

• in mice from the N7 generation compared to littermate controls

decreased satellite cell number ( J:178310 )

• in mice from the N7 generation compared to littermate controls

• gradual decrease in satellite cells with age

impaired skeletal muscle regeneration ( J:178310 )

• regeneration following cardiotoxin injection is impaired in mice from the N7 generation

growth/size/body

decreased body size ( J:178310 )

• slight decrease in body size in mice from the N7 generation compared to littermate controls

decreased body weight ( J:178310 )

• significant decrease in body weight in mice from the N7 generation compared to littermate controls

cellular

abnormal skeletal muscle satellite cell proliferation ( J:178310 )

• expression analysis indicates satellite cells are not in an undifferentiated quiescent state in adult skeletal muscle in mice from the N7 generation

Genotype
MGI:3574774

cx4

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Hey2^tm1Kkb/Hey2^tm1Kkb
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:96337 )

• double homozygotes die by E11.5

cardiovascular system

abnormal artery morphology ( J:96337 )

• the cell layers surrounding the arteries are thinner

abnormal artery development ( J:96337 )

• the putative dorsal aorta lacks expression of smooth muscle actin and Ephrin-B2 suggesting failure of arterial differentiation

abnormal dorsal aorta morphology ( J:96337 )

• the putative dorsal aorta lacks expression of smooth muscle actin and Ephrin-B2 suggesting failure of arterial differentiation

abnormal myocardial fiber morphology ( J:96337 )

• the cardiomyocytes are disorganized with fewer myofibrils and swollen and irregular mitochondria

trabecula carnea hypoplasia ( J:96337 )

• the trabecular zone is not properly formed at E10.5

• hypoplastic trabeculae are seen in the single open atria and ventricle

• initial formation of the trabecular zone is normal however more apoptotic cells are seen compared to double heterozygous littermates at E10

abnormal cardiac epithelial to mesenchymal transition ( J:96337 )

• at E9.5 cardiac endothelial cell transformation does not occur in the AV cushion despite enrichment of the extracellular matrix

abnormal heart development ( J:96337 )

• the heart chambers fails to divide resulting in a single atria and ventricles at E10.5

• however, right-left polarity is established

abnormal atrioventricular cushion morphology ( J:96337 )

• the AV cushions are not properly formed at E10.5

common atrium ( J:96337 )

• only a single atria is present at E10.5

common ventricle ( J:96337 )

• only a single ventricle is present at E10.5

thin ventricular wall ( J:96337 )

hemorrhage ( J:96337 )

• seen at E10.5

embryo

small first pharyngeal arch ( J:96337 )

• the first pharyngeal arches are smaller at E10.5

small second pharyngeal arch ( J:96337 )

• the second pharyngeal arches are smaller at E10.5

abnormal vitelline vascular remodeling ( J:96337 )

• at E10.5 large blood vessels fail to form in the yolk sac; however, small blood vessels are present

muscle

abnormal myocardial fiber morphology ( J:96337 )

• the cardiomyocytes are disorganized with fewer myofibrils and swollen and irregular mitochondria

trabecula carnea hypoplasia ( J:96337 )

• the trabecular zone is not properly formed at E10.5

• hypoplastic trabeculae are seen in the single open atria and ventricle

• initial formation of the trabecular zone is normal however more apoptotic cells are seen compared to double heterozygous littermates at E10

nervous system

abnormal telencephalon morphology ( J:96337 )

• at E10.5 the telencephalic regions are poorly formed

craniofacial

small first pharyngeal arch ( J:96337 )

• the first pharyngeal arches are smaller at E10.5

small second pharyngeal arch ( J:96337 )

• the second pharyngeal arches are smaller at E10.5

Genotype
MGI:5302521

cx5

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Heyl^tm1Kkb/Heyl^tm1Kkb
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:178310 )

• Background Sensitivity: about 90% of pups survive the first 3 weeks of life on a mixed (N2) background compared to less than 5% of pups on an inbred C57BL/6 (N9) background