Phenotypes Associated with This Genotype

Genotype
MGI:2387022

• Allelic Composition: Kitl^Sl/Kitl^Sl-d
• Genetic Background: involves: C57BL/6 * WC

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

mortality/aging

premature death ( J:5758 )

• 69% of mice live until 4 weeks of age, and 59% survive to 5 months; life span of mice reaching 5 months is reduced 51% vs wild-type

• 88% of mice die from leukemia or ulcerative dermatitis

growth/size/body

weight loss ( J:5758 )

• dermatitis is accompanied by weight loss

hematopoietic system

thymus atrophy ( J:5758 )

• at autopsy, thymic atrophy was observed in mice that developed ulcerative dermatitis

anemia ( J:2777 , J:27511 )

• packed cell volumes (PCVs) are 28.8 compared to ~45 for controls (J:2777)

• surviving mice show macrocytic anemia (J:27511)

decreased hematocrit ( J:27511 )

• hematocrit is lower than normal (~29%) and have lower than normal numbers of macrocytic erythrocytes

reticulocytosis ( J:27511 )

• reticulocyte percentages are higher (8-12%) than in Kitl^W/Kitl^W-v mice

reproductive system

reproductive system phenotype ( J:5547 )

N • although mutants show a severe deficiency of primordial germ cells (PGCs), migration remaining PGCs from gut endoderm to gonadal ridges appears normal

decreased primordial germ cell number ( J:5547 )

• mean of total PGC counts in embryos on E9 do not differ from mutant counts on E10 and E11; however, means of counts from normal embryos on E10 and E11 are 3 and 8-fold higher than day 9 mean PGC count, indicating a paucity of PGCs in mutants

infertility ( J:5547 )

• mice carrying two mutant alleles at the Kitl locus are sterile

neoplasm

abnormal tumor incidence ( J:5758 )

• no mice develop reticulum cell neoplasms compared to 30% of controls at 889 days of age

increased leukemia incidence ( J:5758 )

• lymphocytic leukemia develops in mice (37%) at average age of 370 days vs 5% incidence in wild-type and heterozygous mice at 965 days of age

increased papilloma incidence ( J:2777 )

• mice develop gastric papillomas, with greater frequency than controls

immune system

stomach inflammation ( J:2777 )

• mixed inflammatory infiltrates are seen in lamina propria and submucosa of stomach

thymus atrophy ( J:5758 )

• at autopsy, thymic atrophy was observed in mice that developed ulcerative dermatitis

dermatitis ( J:5758 )

• progressive ulcerative dermatitis develops at average age of 441 days (56% incidence), predominantly on the head and neck and in the axilla vs 20% of controls at 772 days of age; only 5 mice displayed lymphocytic leukemia as well

digestive/alimentary system

abnormal forestomach morphology ( J:2777 )

• lamina propria of forestomach is mildly edematous with mixed inflammatory infiltrate

• all layers of forestomach are increased in thickness, but stratum spinosum and stratum corneum are most affected

abnormal stomach epithelium morphology ( J:2777 )

• forestomach is significantly thicker (187 um) than controls (40 um)

abnormal stomach non-glandular epithelium morphology ( J:2777 )

• nonglandular portion of forestomach is consists of stratified squamous epithelium that is significantly thicker than controls and appears as short folds extending into lamina propria in endophytic pattern

gastric ulcer ( J:2777 )

• one mutant had an ulcer in glandular portion of stomach

stomach inflammation ( J:2777 )

• mixed inflammatory infiltrates are seen in lamina propria and submucosa of stomach

integument

dermatitis ( J:5758 )

• progressive ulcerative dermatitis develops at average age of 441 days (56% incidence), predominantly on the head and neck and in the axilla vs 20% of controls at 772 days of age; only 5 mice displayed lymphocytic leukemia as well

endocrine/exocrine glands

thymus atrophy ( J:5758 )

• at autopsy, thymic atrophy was observed in mice that developed ulcerative dermatitis

cellular

decreased primordial germ cell number ( J:5547 )

• mean of total PGC counts in embryos on E9 do not differ from mutant counts on E10 and E11; however, means of counts from normal embryos on E10 and E11 are 3 and 8-fold higher than day 9 mean PGC count, indicating a paucity of PGCs in mutants