Phenotypes associated with this allele

• Allele Symbol: Adam17^tm1.2Rain
• Allele Name: targeted mutation 1.2, Elaine W Raines
• Allele ID: MGI:5478752
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adam17^tm1.2Rain/Adam17^tm1.2Rain	C57BL/6-Adam17^tm1.2Rain	MGI:5478756
cn2	Adam17^tm1.1Rain/Adam17^tm1.2Rain Tg(Tek-cre)12Flv/0	B6.Cg-Adam17^tm1.1Rain Adam17^tm1.2Rain Tg(Tek-cre)12Flv	MGI:5478754

Genotype
MGI:5478756

hm1

• Allelic Composition: Adam17^tm1.2Rain/Adam17^tm1.2Rain
• Genetic Background: C57BL/6-Adam17^tm1.2Rain

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

mortality/aging

perinatal lethality, complete penetrance ( J:195050 )

• all die late in embryogenesis or right after birth

cardiovascular system

abnormal atrioventricular valve morphology ( J:195050 )

• enlarged at E18.5

increased heart weight ( J:195050 )

• at E18.5

enlarged semilunar valve ( J:195050 )

• enlarged semilunar valves at E18.5

growth/size/body

increased heart weight ( J:195050 )

• at E18.5

Genotype
MGI:5478754

cn2

• Allelic Composition: Adam17^tm1.1Rain/Adam17^tm1.2Rain; Tg(Tek-cre)12Flv/0
• Genetic Background: B6.Cg-Adam17^tm1.1Rain Adam17^tm1.2Rain Tg(Tek-cre)12Flv

mortality/aging

postnatal lethality, incomplete penetrance ( J:195050 )

• under represented by 75% at weaning but found at the expected frequency at E18.5

cardiovascular system

increased heart weight ( J:195050 )

• cardiomegaly occurs postnatally as heart to body mass ratio is similar to controls at E18.5

abnormal semilunar valve morphology ( J:195050 )

• enlarged at E18.5

• valve cusps appear hyperplastic with a 43% increase in the median number of cells and 57% increase in thickness

• increase in thickness is persistent in adults

• however, unlike in global null mice atrioventricular valve leaflets are not overtly abnormal

abnormal aortic valve cusp morphology ( J:195050 )

• the glycosaminoglycan/proteoglycan-rich spongiosa layer of the extracellular matrix is enlarged with increased space between the granules

• 9 of 13 mutants have at least one cusp with aberrant localization and/or excessive levels of collagen

thick aortic valve cusps ( J:195050 )

aortic valve stenosis ( J:195050 )

• in surviving adults

enlarged semilunar valve ( J:195050 )

• at E18.5

increased heart left ventricle size ( J:195050 )

♀ • increase in left ventricular end diastolic dimension in females at 24 to 28 weeks of age

increased heart left ventricle weight ( J:195050 )

• increase in heart size is primarily due to expansion of the left ventricle

decreased cardiac muscle contractility ( J:195050 )

• decrease in ejection fraction ad fractional shortening in males and females at 24 to 28 weeks of age

abnormal aortic valve flow ( J:195050 )

♀ • increase in aortic valve peak velocity in females at 24 to 28 weeks of age

increased heart rate ( J:195050 )

♀ • at 24 to 28 weeks of age in females

muscle

decreased cardiac muscle contractility ( J:195050 )

• decrease in ejection fraction ad fractional shortening in males and females at 24 to 28 weeks of age

growth/size/body

increased heart weight ( J:195050 )

• cardiomegaly occurs postnatally as heart to body mass ratio is similar to controls at E18.5