Phenotypes associated with this allele

• Allele Symbol: Adam19^tm1Asf
• Allele Name: targeted mutation 1, Atsuko Schara-Fujisawa
• Allele ID: MGI:3620562
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adam19^tm1Asf/Adam19^tm1Asf	either: B6.129P2-Adam19^tm1Asf or (involves: 129P2/OlaHsd * C57BL/6J)	MGI:3620962

Genotype
MGI:3620962

hm1

• Allelic Composition: Adam19^tm1Asf/Adam19^tm1Asf
• Genetic Background: either: B6.129P2-Adam19^tm1Asf or (involves: 129P2/OlaHsd * C57BL/6J)

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

growth/size/body

heart right ventricle hypertrophy ( J:106261 )

mortality/aging

postnatal lethality, incomplete penetrance ( J:106261 )

• null mice are born alive, but most die within 1 week

cardiovascular system

aortopulmonary window ( J:106261 )

• in 2 of 6 adults, a small hole is found between the aorta and the pulmonary artery

abnormal atrioventricular cushion morphology ( J:106261 )

• much less cushion tissue is distributed in the septum forming region compared to wild-type; the cushion tissues of the aortic valve and AV-valve forming regions are similar or larger in size compared to wild-type

• by E17.5, retardation of cushion tissue remodeling is evident; in wild-type AV cushions, the mesenchyme developed thick fibrils whereas the nulls had fine meshes of thin fibrils spread throughout the mesenchyme ot the cushion

decreased atrioventricular cushion size ( J:106261 )

• the AV cushion is smaller and thinner in mutants at E12.5 and 13.5

abnormal aortic valve development ( J:106261 )

• aortic valves are morphologically immature (10 of 12 animals); defects in aortic valves are less severe than in pulmonary valves

abnormal pulmonary valve development ( J:106261 )

• pulmonary valves are morphologically immature (10 of 12 animals)

• in 2 of 6 adults, the pulmonary valve is immature

overriding aortic valve ( J:106261 )

• aorta arises over the ventral septal defect

abnormal mitral valve morphology ( J:106261 )

• mitral valve is mildly affected (3 of 12 animals) or apparently normal

abnormal tricuspid valve morphology ( J:106261 )

• tricuspid valve is severely impaired in 10 of 12 animals

perimembraneous ventricular septal defect ( J:106261 )

• all of newborn hearts examined have a defect in the membranous portion of the ventricular septum

• in adult nulls 3 of 4 have ventricular septal defects

increased heart right ventricle size ( J:106261 )

• adults commonly exhibit a markedly enlarged right ventricle

heart right ventricle hypertrophy ( J:106261 )

muscle

heart right ventricle hypertrophy ( J:106261 )

abnormal skeletal muscle morphology ( J:106261 )

• in nulls, some skeletal muscles are thinner than in wild-type littermates

thin diaphragm muscle ( J:106261 )

• diaphragm muscles of nulls at E18.5 and P1 are thinner than in wild-type, attributable to differences in the thickness of the myofibers with respect to wild-type

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:106261 )

• in null mice at E18.5 and P1, penetration of the adrenal medulla by thick preganglionic neuron bundles is impaired in knockouts