Kitl<Sl-d> Spontaneous Allele Detail MGI Mouse (MGI:1856164)

Kitl^Sl-d
Spontaneous Allele Detail

Nomenclature

Symbol:	Kitl^Sl-d
Name:	kit ligand; steel Dickie
MGI ID:	MGI:1856164
Synonyms:	KL, MGF, Mgf^Sl-d, Sl^d, Sld
Gene:	Kitl Location: Chr10:99478264-99563047 bp, + strand Genetic Position: Chr10, 57.0 cM

Kitl^Sl/Kitl^Sl-d mouse

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

DBA/2J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Intragenic deletion
	A 4kb deletion in genomic DNA results in the absence of 241bp in the mRNA and the addition of 67bp of novel sequence, a 174bp net loss. The region that is deleted corresponds to 5 amino acids N-terminal to the transmembrane domain of the encoded protein, and results in termination of the open reading frame after an additional 3 amino acids. The resulting protein is a soluble truncated one, lacking both transmembrane and cytoplasmic domains. Northern analysis indicates that mRNA is transcribed at nearly wild-type levels in adult tissues. (J:10750, J:20286, J:40339)
Inheritance:	Semidominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 5 strains available Cell Lines: 0 lines available
Carrying any Kitl Mutation:	60 strains or lines available

Expression

In Mice Carrying this Mutation:

4 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	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
cellular		√
increased apoptosis		√
abnormal cell migration		√
abnormal cell proliferation		√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
digestive/alimentary system										√
abnormal stomach morphology										√
abnormal stomach epithelium morphology										√
abnormal stomach squamous epithelium morphology										√
peptic ulcer										√
stomach inflammation										√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
embryogenesis				√
abnormal melanoblast morphology				√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
growth/size								√		√
decreased body weight								√
weight loss										√
postnatal growth retardation								√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
hematopoietic system		√	√		√	√		√	√	√
decreased mast cell number						√			√
abnormal red blood cell								√
low mean erythrocyte cell number		√			√
increased mean corpuscular volume		√			√
decreased hematocrit		√								√
increased mean corpuscular hemoglobin concentration		√
anemia			√			√				√
macrocytic anemia		√			√
increased mean corpuscular hemoglobin					√
abnormal osteoclast morphology								√
abnormal reticulocyte morphology										√
thymus atrophy										√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
homeostasis/metabolism								√
increased porphyrin level								√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
immune system						√		√	√	√
decreased mast cell number						√			√
abnormal osteoclast morphology								√
abnormal response to transplant									√
stomach inflammation										√
thymus atrophy										√
dermatitis										√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
life span/aging		N								√
life span/aging phenotype		N
premature death										√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
nervous system				√
abnormal melanoblast morphology				√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
pigmentation			√		√		√
abnormal coat/hair pigmentation			√
abnormal ventral coat pigmentation					√
head spot					√
diluted coat color							√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
reproductive system		√	√							√
reproductive system phenotype										N
abnormal primordial germ cell morphology		√
decreased primordial germ cell number		√								√
infertility			√							√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
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	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
skin/coat/nails			√		√		√			√
abnormal coat/hair pigmentation			√
abnormal ventral coat pigmentation					√
head spot					√
diluted coat color							√
dermatitis										√
		hm1	hm2	hm3	ht4	ht5	ht6	ht7	ht8	ht9
tumorigenesis										√
abnormal tumor incidence										√
leukemia										√
papilloma										√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Kitl^Sl-d/Kitl^Sl-d	C3.D2-Kitl^Sl-d
life span/aging life span-post-weaning/aging (J:79293) homozygotes are viable with expected number of homozygotes observed at P1; 83% of mice survive to P18, similar to wild-type hematopoietic system low mean erythrocyte cell number (J:79293) significantly lower than wild-type at birth (32% of wild-type value) increased mean corpuscular volume (J:79293) significantly increased compared to wild-type at P24-25 decreased hematocrit (J:79293) significantly lower than wild-type at P24-25 increased mean corpuscular hemoglobin concentration (J:79293) significantly increased compared to wild-type at P24-25 macrocytic anemia (J:79293) severe at birth reproductive system abnormal primordial germ cell morphology (J:115437) between E9.5 and 10.5, most PGCs are found with in the hindgut and these have abnormal morphology, while in wild-type embryos most PGCs are found in dorsal portions of mesentery decreased primordial germ cell number (J:115437) moderate numbers of primordial germ cells (PGCs) are seen in genital ridges relative to wild-type and Kitl^Sl-gb homozygotes at E11.5 at E9.5, PGCs are located primarily in the ventral axis of the hindgut while in wild-type PGCs are found primarily associated with the hindgut epithelium or in the dorsal axis of the hindgut; total PGC number in mutant embryos is 22% of wild-type cellular increased apoptosis (J:115437) at E10.5, many PGCs in hindgut appear to be disintegrating; abnormal PGCs in hindgut tend to be nonmotile and apoptotic abnormal cell migration (J:115437) at E10.5, only 45% of total PGCs have migrated from hindgut, compared to 93% in wild-type abnormal cell proliferation (J:115437) proliferation indices of migratory (in mesentery and genital ridges) and postmigratory PGCs (in genital ridges) at 10.5 and 11.5 are significantly reduced compared to wild-type values (54-66% of wild-type values)
Genotype	Allelic Composition	Genetic Background
hm2	Kitl^Sl-d/Kitl^Sl-d	either: DBA/2J or (C57BL/6 x DBA/2)F1
hematopoietic system anemia (J:20286, J:13392) mice display anemia (J:13392) pigmentation abnormal coat/hair pigmentation (J:20286, J:13392) mice are white (with black eyes) (J:13392) reproductive system infertility (J:20286, J:13392) mice are sterile (J:13392) skin/coat/nails abnormal coat/hair pigmentation (J:20286, J:13392) mice are white (with black eyes) (J:13392)
Genotype	Allelic Composition	Genetic Background
hm3	Kitl^Sl-d/Kitl^Sl-d	Not Specified
embryogenesis abnormal melanoblast morphology (J:31646) at embryonic day 11 there are far fewer than normal melanoblasts and these are mostly restricted to a site just caudal to the otic visicle, from embryonic day 12 onward very few melanoblasts are found, and none are found postnatally nervous system abnormal melanoblast morphology (J:31646) at embryonic day 11 there are far fewer than normal melanoblasts and these are mostly restricted to a site just caudal to the otic visicle, from embryonic day 12 onward very few melanoblasts are found, and none are found postnatally
Genotype	Allelic Composition	Genetic Background
ht4	Kitl^Sl-d/Kitl⁺	C3.D2-Kitl^Sl-d
hematopoietic system low mean erythrocyte cell number (J:79293) at P1, mean red blood cell (RBC) counts are not different from Kitl^Sl-d / Kitl^Sl-gb compound heterozygotes (2.9 x 10⁹ cells/ml; 4.1 x 10⁹ cells/ml in wild-type mice) increased mean corpuscular volume (J:79293) significantly increased compared to wild-type at P24-25 increased mean corpuscular hemoglobin (J:79293) significantly increased compared to wild-type at P24-25 macrocytic anemia (J:79293) mild at birth pigmentation abnormal ventral coat pigmentation (J:79293) diluted ventrum head spot (J:79293) skin/coat/nails abnormal ventral coat pigmentation (J:79293) diluted ventrum head spot (J:79293)
Genotype	Allelic Composition	Genetic Background
ht5	Kitl^Sl-d/Kitl⁺	either: (involves: C57BL/6 * DBA/2J) 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
ht6	Kitl^Sl-d/Kitl⁺	either: DBA/2J or (C57BL/6 x DBA/2)F1
pigmentation diluted coat color (J:13392) heterozygotes have a slightly diluted coat color skin/coat/nails diluted coat color (J:13392) heterozygotes have a slightly diluted coat color
Genotype	Allelic Composition	Genetic Background
ht7	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
ht8	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
ht9	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

Notes

Genbank ID for this allele: M64262

References

Original:	J:13392 Bernstein S, "Steel Dickie" Mouse News Lett 1960;23():33-4
All:	54 reference(s)

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