Phenotypes associated with this allele

• Allele Symbol: Rhbdf1^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5792831
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rhbdf1^tm1b(EUCOMM)Wtsi/Rhbdf1^tm1b(EUCOMM)Wtsi	involves: C57BL/6N * FVB/N	MGI:5803828
cx2	Rhbdf1^tm1b(EUCOMM)Wtsi/Rhbdf1^tm1b(EUCOMM)Wtsi Rhbdf2^tm1Mak/Rhbdf2^tm1Mak	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N * FVB/N	MGI:5803831

Genotype
MGI:5803828

hm1

• Allelic Composition: Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N * FVB/N
• Cell Lines: EPD0577_2_H04

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

normal phenotype

no abnormal phenotype detected ( J:221411 )

• despite a severe reduction of mature ADAM17 protein in different brain regions, mice are viable, healthy and phenotypically indistinguishable from wild-type controls during routine handling, and survive up to at least 6 months of age with no evidence of spontaneous pathological phenotypes or histopathological brain defects

• following stimulation with phorbol ester (PMA), circulating CD45^high leukocytes isolated from brain show normal downregulation of the substrate CD62L (L-selectin) relative to wild-type controls

• LPS-stimulated release of the ADAM17 substrate TNF from resident microglia is similar to that in wild-type controls

Genotype
MGI:5803831

cx2

• Allelic Composition: Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi}; Rhbdf2^tm1Mak/Rhbdf2^tm1Mak
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N * FVB/N
• Cell Lines: EPD0577_2_H04

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 )

• mice are born at the expected Mendelian ratio but show perinatal lethality

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

enlarged tricuspid valve ( J:221411 )

• newborn (P1) mice display enlarged tricuspid heart valves

• however, mitral valves are normal

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

enlarged pulmonary valve ( J:221411 )

• newborn (P1) mice display enlarged pulmonic heart valves

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