Phenotypes Associated with This Genotype

Genotype
MGI:5803829

• Allelic Composition: Rhbdf2^tm1Mak/Rhbdf2^tm1Mak
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

immune system

abnormal leukocyte physiology ( J:221411 )

• phorbol ester (PMA)-stimulated shedding of CD62L (L-selectin) is almost completely abolished in circulating CD45^high leukocytes isolated from mutant brain, unlike in wild-type brain leukocytes

abnormal microglial cell physiology ( J:221411 )

• LPS-stimulated release of the ADAM17 substrate TNF is almost undetectable in mutant resident microglia (CD45^lowCD11b^highF4/80⁺Ly6C^low cells), unlike in wild-type microglia

decreased tumor necrosis factor secretion ( J:221411 )

• LPS-stimulated release of the ADAM17 substrate TNF is almost undetectable in mutant resident microglia, unlike in wild-type microglia

hematopoietic system

abnormal leukocyte physiology ( J:221411 )

• phorbol ester (PMA)-stimulated shedding of CD62L (L-selectin) is almost completely abolished in circulating CD45^high leukocytes isolated from mutant brain, unlike in wild-type brain leukocytes

abnormal microglial cell physiology ( J:221411 )

• LPS-stimulated release of the ADAM17 substrate TNF is almost undetectable in mutant resident microglia (CD45^lowCD11b^highF4/80⁺Ly6C^low cells), unlike in wild-type microglia

nervous system

abnormal microglial cell physiology ( J:221411 )

• LPS-stimulated release of the ADAM17 substrate TNF is almost undetectable in mutant resident microglia (CD45^lowCD11b^highF4/80⁺Ly6C^low cells), unlike in wild-type microglia

vision/eye

vision/eye phenotype ( J:221411 )

N • mice do not exhibit open eyes at birth

cardiovascular system

cardiovascular system phenotype ( J:221411 )

N • newborn mice display normal aortic, pulmonic, and tricuspid heart valves

skeleton

skeleton phenotype ( J:221411 )

N • newborn mice display normal femoral and humeral growth plates

cellular

abnormal microglial cell physiology ( J:221411 )

• LPS-stimulated release of the ADAM17 substrate TNF is almost undetectable in mutant resident microglia (CD45^lowCD11b^highF4/80⁺Ly6C^low cells), unlike in wild-type microglia