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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Adam17tm1.2Rain
targeted mutation 1.2, Elaine W Raines
MGI:5478752
Summary 2 genotypes


Genotype
MGI:5478756
hm1
Allelic
Composition		 Adam17tm1.2Rain/Adam17tm1.2Rain
Genetic
Background		 C57BL/6-Adam17tm1.2Rain
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Rain mutation (0 available); any Adam17 mutation (64 available)
♀ 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
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		 Adam17tm1.1Rain/Adam17tm1.2Rain
Tg(Tek-cre)12Flv/0
Genetic
Background		 B6.Cg-Adam17tm1.1Rain Adam17tm1.2Rain Tg(Tek-cre)12Flv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.1Rain mutation (0 available); any Adam17 mutation (64 available)
Adam17tm1.2Rain mutation (0 available); any Adam17 mutation (64 available)
Tg(Tek-cre)12Flv mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
aortic valve stenosis ( J:195050 )
• in surviving adults
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




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory