Phenotypes associated with this allele

• Allele Symbol: Rabgef1^tm1Glli
• Allele Name: targeted mutation 1, Stephen J Galli
• Allele ID: MGI:3051384
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rabgef1^tm1Glli/Rabgef1^tm1Glli	either: (involves: 129P2/OlaHsd * 129S/SvEv) or (involves: 129P2/OlaHsd * C57BL/6)	MGI:3051405

Genotype
MGI:3051405

hm1

• Allelic Composition: Rabgef1^tm1Glli/Rabgef1^tm1Glli
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S/SvEv) or (involves: 129P2/OlaHsd * C57BL/6)

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

homeostasis/metabolism

increased circulating histamine level ( J:91790 )

• serum histamine levels are increased

mortality/aging

postnatal lethality, incomplete penetrance ( J:91790 )

• most died within the first week of life, a small number survive to adulthood

hematopoietic system

abnormal mast cell morphology ( J:91790 )

• evidence of degranulation of mast cells in the skin

cutaneous mastocytosis ( J:91790 )

• increased mast cell number in the skin

increased IgE level ( J:91790 )

• increased serum levels of IgE

immune system

abnormal mast cell morphology ( J:91790 )

• evidence of degranulation of mast cells in the skin

cutaneous mastocytosis ( J:91790 )

• increased mast cell number in the skin

increased IgE level ( J:91790 )

• increased serum levels of IgE

increased interleukin-6 secretion ( J:91790 )

• increased IL-6 release in response to high affinity IgE receptor aggregation

increased tumor necrosis factor secretion ( J:91790 )

• increased TNF release in response to high affinity IgE receptor aggregation

abnormal inflammatory response ( J:91790 )

chronic inflammation ( J:91790 )

• mice surviving to adulthood develop severe skin inflammation

• detectable microscopically by 3-4 weeks af age and grossly by 6-8 weeks

integument

abnormal dermal layer morphology ( J:91790 )

• dermal inflammation with increased vascularity

abnormal epidermal layer morphology ( J:91790 )

• intracellular edema in the epidermis

• neutrophil accumulation in superficial layers of epidermis

abnormal keratinocyte morphology ( J:91790 )

• hyperkeratosis

epidermal hyperplasia ( J:91790 )