Kitl<Sl> Spontaneous Allele Detail MGI Mouse (MGI:1856161)

Kitl^Sl
Spontaneous Allele Detail

Nomenclature

Symbol:	Kitl^Sl
Name:	kit ligand; steel
MGI ID:	MGI:1856161
Synonyms:	Mgf^Sl, Sl
Gene:	Kitl Location: Chr10:99478264-99563047 bp, + strand Genetic Position: Chr10, 57.0 cM

Pax3^Sp/+ and Kitl^Sl/+

Show the 2 image(s) involving this allele.

Mutation
origin

Strain of Origin:

C3H

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	By Southern blotting, it was concluded that this allele contains a deletion encompassing most, if not all, of the coding region of the gene. A probe corresponding to nucleotides 6 to 685 of the cDNA failed to hybridize to DNA obtained from embryos homozygous for this allele. PCR analysis with primers for sequences at various distances from the Kit gene narrowed the 5' and 3' deletion endpoints to a 350 and a 380 base-pair region, respectively. Sequencing of the product of PCR using primers designed to span the deletion revealed that it extends through 973,366 base pairs on Chromosome 10 between nucleotide positions 99,177,807 and 100,151,173 (NCBI Map Viewer, Build 36.1), with a 4-base pair insertion joining the deletion endpoints, and contains 6 predicted and 3 known genes. (J:10750, J:115283)
Inheritance:	Semidominant

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 4 strains available Cell Lines: 0 lines available
Carrying any Kitl Mutation:	60 strains or lines available

Expression

In Mice Carrying this Mutation:

5 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
cardiovascular system		√
abnormal blood circulation		√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
craniofacial					√
abnormal ear pigmentation					√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
digestive/alimentary system								√
abnormal stomach morphology								√
abnormal stomach epithelium morphology								√
abnormal stomach squamous epithelium morphology								√
peptic ulcer								√
stomach inflammation								√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
embryogenesis		√
spina bifida		√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
growth/size						√		√
decreased body weight						√
weight loss								√
postnatal growth retardation						√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
hearing/vestibular/ear					√
abnormal ear pigmentation					√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
hematopoietic system		√	√		√	√	√	√			√
decreased mast cell number			√				√				√
abnormal red blood cell						√
anemia		√	√		√			√
decreased erythrocyte cell number					√
decreased hematocrit								√
abnormal osteoclast morphology						√
abnormal reticulocyte morphology								√
thymus atrophy								√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
homeostasis/metabolism						√
increased porphyrin level						√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
immune system			√			√	√	√			√
decreased mast cell number			√				√				√
abnormal osteoclast morphology						√
abnormal response to transplant							√
stomach inflammation								√
thymus atrophy								√
dermatitis								√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
lethality/prenatal-perinatal		√
perinatal lethality		√
lethality throughout fetal growth and development		√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
life span/aging								√
premature death								√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
nervous system		√
spina bifida		√
abnormal brain development		√
myelencephalic blebs		√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
pigmentation		√			√						√
abnormal skin pigmentation					√
absent skin pigmentation		√
abnormal ear pigmentation					√
abnormal coat/hair pigmentation											√
diluted coat color					√
head blaze					√
belly spot					√
head spot					√
hypopigmentation											√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
reproductive system		√			N			√	√	√
reproductive system phenotype					N			N
decreased primordial germ cell number								√
abnormal reproductive system physiology									√
infertility		√						√
abnormal primordial germ cell migration									√
abnormal primordial germ cell proliferation										√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
skeleton						√
abnormal osteoclast morphology						√
decreased bone density						√
abnormal cancellous bone morphology						√
decreased cortical bone thickness						√
abnormal skeleton development						√
abnormal bone mineralization						√
abnormal osteoblast physiology						√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
skin/coat/nails		√			√			√			√
pallor		√			√
abnormal skin pigmentation					√
absent skin pigmentation		√
abnormal ear pigmentation					√
dermatitis								√
abnormal coat/hair pigmentation											√
diluted coat color					√
head blaze					√
belly spot					√
head spot					√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
touch/vibrissae					√
abnormal vibrissa morphology					√
		hm1	ht2	ht3	ht4	ht5	ht6	ht7	tg8	tg9	tg10
tumorigenesis				√				√
abnormal tumor incidence								√
increased tumor incidence				√
testicular teratoma				√
leukemia								√
papilloma								√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Kitl^Sl/Kitl^Sl	involves: C3H
lethality/prenatal-perinatal perinatal lethality (J:28098) an occasional mutant survives until birth lethality throughout fetal growth and development (J:3399) no presumed homozygotes are born; homozygotes begin to die at ~E15-15.5 from anemia nervous system spina bifida (J:3399) 4/330 embryos aged E14.5-17.5 displayed spina bifida abnormal brain development (J:3399) at E10.5-12.5, small number of embryos, presumably homozygous, have brain abnormalities, including a collapsed brain, pseudoencephaly or a narrowed brain region from E14.5-17.5, some embryos show abnormal brain development (3/330) as described in younger embryos myelencephalic blebs (J:3399) one E17.5 embryo displayed a bleb near the midline in the cervical region hematopoietic system anemia (J:3399) starting around E13.5 and peaking at E14.5, presumed homozygotes display anemia recognized by overall paleness of the embryos cardiovascular system abnormal blood circulation (J:3399) in affected (anemic) animals, individual clumps or red blood cells can be seen in umbilical vessels; in controls, vessels are uniformly red with normal blood flow skin/coat/nails absent skin pigmentation (J:28098) transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair pallor (J:3399) characteristic of anemic embryos reproductive system infertility (J:5547) mice carrying two mutant alleles are sterile pigmentation absent skin pigmentation (J:28098) transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair embryogenesis spina bifida (J:3399) 4/330 embryos aged E14.5-17.5 displayed spina bifida
Genotype	Allelic Composition	Genetic Background
ht2	Kitl^Sl/Kitl⁺	either: (involves: C3H * WC) or (involves: C3H * C57BL/6 * DBA/2J * WC)
hematopoietic system anemia (J:6084) mice are slightly anemic decreased mast cell number (J:6084) heterozygotes have decreased mast cell numbers in dorsal skin compared to wild-type immune system decreased mast cell number (J:6084) heterozygotes have decreased mast cell numbers in dorsal skin compared to wild-type
Genotype	Allelic Composition	Genetic Background
ht3	Kitl^Sl/Kitl⁺	involves: 129/Sv * C3H
tumorigenesis increased tumor incidence (J:50508) male mice develop ~2-fold more tumors than controls testicular teratoma (J:50508) incidence is 6.92% compared to ~2.6% in controls tumors are predominantly in left testis (71%) vs right (27%) or bilateral (2%) percentage is greater in second and subsequent litters compared to first litter or in first litter of older females compared to young mothers
Genotype	Allelic Composition	Genetic Background
ht4	Kitl^Sl/Kitl⁺	involves: C3H
skin/coat/nails diluted coat color (J:3399) affected mice have overall dilution of coat color, more extreme on the belly than back head blaze (J:3399) very occasionally mice have a white blaze between their eyes belly spot (J:3399) most mice have a white spot on the belly head spot (J:3399) most mice have a white spot on the belly abnormal skin pigmentation (J:3399) mice have light ears abnormal ear pigmentation (J:3399) mice have light feet pallor (J:3399) some pups after birth are pale compared to littermates pigmentation diluted coat color (J:3399) affected mice have overall dilution of coat color, more extreme on the belly than back head blaze (J:3399) very occasionally mice have a white blaze between their eyes belly spot (J:3399) most mice have a white spot on the belly head spot (J:3399) most mice have a white spot on the belly abnormal skin pigmentation (J:3399) mice have light ears abnormal ear pigmentation (J:3399) mice have light feet hematopoietic system decreased erythrocyte cell number (J:3399) at 7-13 days of age, red blood cell counts are 20-30% lower than wild-type anemia (J:3399) mice display less severe anemia than homozygotes hearing/vestibular/ear abnormal ear pigmentation (J:3399) mice have light feet touch/vibrissae abnormal vibrissa morphology (J:3399) mice have light whiskers reproductive system reproductive system phenotype (J:3399) heterozygotes are viable and fertile craniofacial abnormal ear pigmentation (J:3399) mice have light feet
Genotype	Allelic Composition	Genetic Background
ht5	Kitl^Sl/Kitl^Sl-d	(WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J
Kitl^Sl/Kitl^Sl-d mouse growth/size decreased body weight (J:111273) male mutants weigh 29, 27, and 13% less than than wild-type littermates at 5, 7, and 12 weeks of age postnatal growth retardation (J:111273) at 5 weeks, tibial length in males is less than controls, but by 12 weeks there has been catch-up growth and no significant difference is detected skeleton abnormal osteoclast morphology (J:111273) osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males decreased bone density (J:111273) bone mineral density (BMD) in males is significantly reduced at all age groups compared to controls; whole body as well as long bone and lumbar vertebral BMD are reduced in females, BMD at 5 weeks is reduced compared to controls with exception of the femur magnitude of change for each bone is larger in male mutants (9-41%) than female mutants (5-25%) abnormal cancellous bone morphology (J:111273) cancellous bone volume/tissue volume is significantly reduced compared to wild-type decreased cortical bone thickness (J:111273) cortical and marrow area of tibias is reduced in males vs controls abnormal skeleton development (J:111273) bone formation rate is decreased in 5 week old mice and to a lesser extent at 7 weeks, but no difference is seen at 12 weeks abnormal bone mineralization (J:111273) whole body bone mineral content (BMC) is reduced in males compared to controls at all age groups in females, wild-type BMC is higher than in female mutants at 5 weeks abnormal osteoblast physiology (J:111273) in culture, primary osteoblasts display decreased mineralization compared to wild-type when both are treated with BMP-2 hematopoietic system abnormal red blood cell (J:5985) moderate but significant increase in protoporphrin levels in red blood cells compared to controls abnormal osteoclast morphology (J:111273) osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males immune system abnormal osteoclast morphology (J:111273) osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males homeostasis/metabolism increased porphyrin level (J:5985) moderate but significant increase in protoporphrin levels in red blood cells compared to controls
Genotype	Allelic Composition	Genetic Background
ht6	Kitl^Sl/Kitl^Sl-d	involves: C3H * C57BL/6 * DBA/2J * WC
hematopoietic system decreased mast cell number (J:6084) in early postnatal mice, mast cell number in skin is ~4% of wild-type number adult mice have <1% of numbers in wild-type mice no mast cells are detected in stomachs and mesenteries of adult mutants; none are found in cecum, bone marrow, spleen, thymus, heart, lung, kidney, liver or brain in mutants of various ages immune system decreased mast cell number (J:6084) in early postnatal mice, mast cell number in skin is ~4% of wild-type number adult mice have <1% of numbers in wild-type mice no mast cells are detected in stomachs and mesenteries of adult mutants; none are found in cecum, bone marrow, spleen, thymus, heart, lung, kidney, liver or brain in mutants of various ages abnormal response to transplant (J:6084) after receiving skin grafts from Kit/Kit donors, a significant increase in mast cell number in skin is seen, compared no increase observed in reciprocal transplant
Genotype	Allelic Composition	Genetic Background
ht7	Kitl^Sl/Kitl^Sl-d	involves: C57BL/6 * WC
life span/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 weight loss (J:5758) dermatitis is accompanied by weight loss hematopoietic system decreased hematocrit (J:27511) hematocrit is lower than normal (~29%) and have lower than normal numbers of macrocytic erythrocytes 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) abnormal reticulocyte morphology (J:27511) reticulocyte percentages are higher (8-12%) than in Kitl^W/Kitl^W-v mice thymus atrophy (J:5758) at autopsy, thymic atrophy was observed in mice that developed ulcerative dermatitis reproductive system reproductive system phenotype (J:5547) 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 tumorigenesis abnormal tumor incidence (J:5758) no mice develop reticulum cell neoplasms compared to 30% of controls at 889 days of age leukemia (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 papilloma (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 stomach 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 squamous epithelium morphology (J:2777) nonglandular portion of forestomach is consists of stratified squammous epithelium that is significantly thicker than controls and appears as short folds extending into lamina propria in endophytic pattern peptic 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 skin/coat/nails 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
Genotype	Allelic Composition	Genetic Background
tg8	Bax^tm1Sjk/Bax^tm1Sjk Kitl^Sl/Kitl^Sl Tg(Pou5f1-GFP)1Scho/?	involves: 129X1/SvJ * C3H * CD1 * FVB
reproductive system abnormal reproductive system physiology (J:115283) normal apoptosis of primordial germ cells decreased germ cell proliferation abnormal primordial germ cell migration (J:115283) defective germ cell migration out of the hindgut
Genotype	Allelic Composition	Genetic Background
tg9	Bax^tm1Sjk/Bax⁺ Kitl^Sl/Kitl^Sl Tg(Pou5f1-GFP)1Scho/?	involves: 129X1/SvJ * C3H * CD1 * FVB
reproductive system abnormal primordial germ cell proliferation (J:115283) increased apoptosis of primordial germ cells decreased germ cell proliferation
Genotype	Allelic Composition	Genetic Background
tg10	Kitl^Sl/Kitl⁺ Tg(PGK1-KITLG*220)441Daw/0	involves: C3H
pigmentation abnormal coat/hair pigmentation (J:32600) 18% of offspring show more severe pigment loss than either parental strain hypopigmentation (J:32600) skin/coat/nails abnormal coat/hair pigmentation (J:32600) 18% of offspring show more severe pigment loss than either parental strain hematopoietic system decreased mast cell number (J:32600) numbers of connective tissue mast cells are greatly reduced relative to controls immune system decreased mast cell number (J:32600) numbers of connective tissue mast cells are greatly reduced relative to controls

References

Original:	J:3399 Sarvella PA et al., "Steel, a new dominant gene in the house mouse" J Hered 1956;47():123-128
All:	50 reference(s)

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