Phenotypes associated with this allele

• Allele Symbol: Rr347^em1Prdns
• Allele Name: endonuclease-mediated mutation 1, Clare Pridans
• Allele ID: MGI:7431475
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rr347^em1Prdns/Rr347^em1Prdns	C57BL/6J-Rr347^em1Prdns	MGI:7432714
hm2	Rr347^em1Prdns/Rr347^em1Prdns	CBA/Ca-Rr347^em1Prdns	MGI:7432325

Genotype
MGI:7432714

hm1

• Allelic Composition: Rr347^em1Prdns/Rr347^em1Prdns
• Genetic Background: C57BL/6J-Rr347^em1Prdns

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

nervous system

hydrocephaly ( J:281171 )

• mice need to be culled by age 2 weeks because of hydrocephalus

mortality/aging

postnatal lethality, complete penetrance ( J:281171 )

• mice need to be culled by age 2 weeks because of hydrocephalus

Genotype
MGI:7432325

hm2

• Allelic Composition: Rr347^em1Prdns/Rr347^em1Prdns
• Genetic Background: CBA/Ca-Rr347^em1Prdns

hematopoietic system

absent Langerhans cell ( J:281171 )

• absent in epidermal sheets from tail

decreased macrophage cell number ( J:281171 )

• reduced number of bone marrow-derived macrophages

• virtual absence of TIM4+ F4/80-hi CD11b-hi and TIM4- F4/80-lo peritoneal macrophages

• virtual absence of F4/80-hi CD11b-lo kidney macrophages and fewer CD4+ kidney cells

• fewer CD4+ cardiac cells

• reduced number of F4/80-hi CD64+ (MHCII-hi) macrophages and monocyte-like (MHCII-lo) in heart

• reduced number of IBA1+ macrophages in embryos

increased Ly6C low monocyte number ( J:281171 )

• increased CD11b+ F4/80-lo monocyte-like cells in liver

decreased microglial cell number ( J:281171 )

• absence of CD45-lo CD11b+ microglia from brain

immune system

immune system phenotype ( J:281171 )

N • normal total bone marrow cellularity

N • normal morphology and relative area of spleen marginal zone

N • normal liver macrophage (Kupffer cell) number, location and morphology

N • normal spleen-to-body-weight ratio

N • normal myeloid population in spleen

N • normal monocyte-like, DC-like, and macrophage populations in small and large intestine

N • normal stellate melanophagic macrophage populations in dermis

N • normal CD45-hi classical macrophages in brain

N • normal CD45-hi CD11b+ CD169+ macrophages in brain

absent Langerhans cell ( J:281171 )

• absent in epidermal sheets from tail

decreased macrophage cell number ( J:281171 )

• reduced number of bone marrow-derived macrophages

• virtual absence of TIM4+ F4/80-hi CD11b-hi and TIM4- F4/80-lo peritoneal macrophages

• virtual absence of F4/80-hi CD11b-lo kidney macrophages and fewer CD4+ kidney cells

• fewer CD4+ cardiac cells

• reduced number of F4/80-hi CD64+ (MHCII-hi) macrophages and monocyte-like (MHCII-lo) in heart

• reduced number of IBA1+ macrophages in embryos

increased Ly6C low monocyte number ( J:281171 )

• increased CD11b+ F4/80-lo monocyte-like cells in liver

decreased microglial cell number ( J:281171 )

• absence of CD45-lo CD11b+ microglia from brain

nervous system

nervous system phenotype ( J:281171 )

N • normal brain and brain ventricle sizes and olfactory bulb morphology

N • normal myelination

N • normal closing of commissure in corpus callosum

N • normal brain-to-body-weight ratio

N • normal CD45-hi classical macrophages in brain

N • normal CD45-hi CD11b+ CD169+ macrophages in brain

N • no vision defects

N • no auditory defects

N • no sensory neuronal defecits

decreased microglial cell number ( J:281171 )

• absence of CD45-lo CD11b+ microglia from brain

renal/urinary system

renal/urinary system phenotype ( J:281171 )

N • normal kidney-to-body-weight ratio

N • normal overall kidney morphology

abnormal kidney morphology ( J:281171 )

• virtual absence of F4/80-hi CD11b-lo kidney macrophages and fewer CD4+ kidney cells

• normal overall kidney morphology

growth/size/body

growth/size/body region phenotype ( J:281171 )

N • no postnatal growth retardation

abnormal peritoneum morphology ( J:281171 )

• virtual absence of TIM4+ F4/80-hi CD11b-hi and TIM4- F4/80-lo peritoneal macrophages

cardiovascular system

cardiovascular system phenotype ( J:281171 )

N • normal cell populations in peripheral blood

N • normal heart-to-body-weight ratio and heart morphology

abnormal heart morphology ( J:281171 )

• fewer CD4+ cardiac cells

• reduced number of F4/80-hi CD64+ (MHCII-hi) macrophages and monocyte-like (MHCII-lo) in heart

• normal overall heart morphology

craniofacial

craniofacial phenotype ( J:281171 )

N • normal tooth eruption

integument

integument phenotype ( J:281171 )

N • normal dermal and epidermal morphology

N • normal stellate melanophagic macrophage populations in dermis

liver/biliary system

liver/biliary system phenotype ( J:281171 )

N • normal liver macrophage (Kupffer cell) number, location and morphology

N • normal liver-to-body-weight ratio

digestive/alimentary system

digestive/alimentary phenotype ( J:281171 )

N • normal intestinal epithelial morphology

N • normal monocyte-like, DC-like, and macrophage populations in small and large intestine

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:281171 )

N • no auditory defects

reproductive system

reproductive system phenotype ( J:281171 )

N • fertile and normal sexual maturation

respiratory system

respiratory system phenotype ( J:281171 )

N • normal alveolar and interstitial macrophage populations in lung

skeleton

skeleton phenotype ( J:281171 )

N • no osteopetrosis

N • normal proximal growth plates

N • normal number of osteoclasts in femurs

vision/eye

vision/eye phenotype ( J:281171 )

N • no vision defects