Phenotypes associated with this allele

• Allele Symbol: Adam17^tm1.1Bbl
• Allele Name: targeted mutation 1.1, Carl P Blobel
• Allele ID: MGI:3713366
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adam17^tm1.1Bbl/Adam17^tm1.1Bbl	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5803832
hm2	Adam17^tm1.1Bbl/Adam17^tm1.1Bbl	involves: 129P2/OlaHsd * FVB/N	MGI:3810469

Genotype
MGI:5803832

hm1

• Allelic Composition: Adam17^tm1.1Bbl/Adam17^tm1.1Bbl
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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

Failure of eyelid closure, enlarged aortic, pulmonic, and tricuspid heart valves, and enlarged zone of hypertrophic chondrocytes in growth plates of Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} Rhbdf2^tm1Mak/Rhbdf2^tm1Mak (iR1/2-/-) and Adam17^tm1.1Bbl/Adam17^tm1.1Bbl mice.

mortality/aging

perinatal lethality ( J:221411 )

vision/eye

failure of eyelid fusion ( J:221411 )

• mice exhibit failure of eyelid closure

eyelids open at birth ( J:221411 )

• mice are born with open eyes

cardiovascular system

thick tricuspid valve cusps ( J:221411 )

• at P1, tricuspid valve leaflets are thickened in relationship to their length

thick aortic valve cusps ( J:221411 )

• newborn (P1) mice show a significant increase in the average width relative to the length of individual aortic valve leaflets

enlarged aortic valve ( J:221411 )

• newborn (P1) mice display enlarged aortic heart valves

thick pulmonary valve cusps ( J:221411 )

• at P1, pulmonic valve leaflets are thickened in relationship to their length

skeleton

increased width of hypertrophic chondrocyte zone ( J:221411 )

• newborn (P1) mice display an enlarged zone of hypertrophic chondrocytes in the femoral and humoral growth plates

Genotype
MGI:3810469

hm2

• Allelic Composition: Adam17^tm1.1Bbl/Adam17^tm1.1Bbl
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:139846 )

• mice die by 13 days of age

vision/eye

eyelids open at birth ( J:139846 )

• eyelids are open at birth

cardiovascular system

abnormal tricuspid valve morphology ( J:139846 )

• defects in the tricuspid valve are noted in newborns

abnormal aortic valve morphology ( J:139846 )

• defects in aortic valves are noted in newborns

abnormal pulmonary valve morphology ( J:139846 )

• defects in pulmonary valves are noted in newborns