Kitl<Sl-gb> Spontaneous Allele Detail MGI Mouse (MGI:1856165)

Kitl^Sl-gb
Spontaneous Allele Detail

Nomenclature

Symbol:	Kitl^Sl-gb
Name:	kit ligand; grizzle belly
MGI ID:	MGI:1856165
Synonyms:	Slgb
Gene:	Kitl Location: Chr10:99478264-99563047 bp, + strand Genetic Position: Chr10, 57.0 cM

Mutation
origin

Strain of Origin:

STOCK a/a Adamts20^bt Mitf^Mi-wh

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	Sequence analysis showed a proximal breakpoint ~60kb 5' of the Kitl coding region and distal breakpoint at position 5287 in the 3'UTR with ~ 120 kb deleted. (J:10748, J:31566)
Inheritance:	Semidominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Kitl Mutation:	60 strains or lines available

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
cellular		√
increased apoptosis		√
abnormal cell migration		√
abnormal cell proliferation		√
		hm1	ht2
hematopoietic system		√	√
low mean erythrocyte cell number		√
macrocytic anemia		√	√
increased mean corpuscular volume			√
increased mean corpuscular hemoglobin			√
		hm1	ht2
lethality/prenatal-perinatal		√
perinatal lethality		√
prenatal lethality		√
lethality throughout fetal growth and development		√
		hm1	ht2
pigmentation			√
abnormal ventral coat pigmentation			√
head spot			√
		hm1	ht2
reproductive system		√
abnormal primordial germ cell morphology		√
decreased primordial germ cell number		√
absent primordial germ cells		√
		hm1	ht2
skin/coat/nails			√
abnormal ventral coat pigmentation			√
head spot			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Kitl^Sl-gb/Kitl^Sl-gb	C3.Cg-Kitl^Sl-gb
lethality/prenatal-perinatal perinatal lethality (J:79293) some are born live but all die by P2 prenatal lethality (J:79293) lethality throughout fetal growth and development (J:79293) 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) 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 19% of wild-type at E10.5, mutants have 4% of the wild-type number of PGCs absent primordial germ cells (J:115437) at E11.5, no alkaline phosphatase-positive primordial germ cells (PGCs) are detected in genital ridges hematopoietic system low mean erythrocyte cell number (J:79293) significantly lower than wild-type at P1 (RBC count is 17% of wild-type value) macrocytic anemia (J:79293) severe at birth 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 31% of total PGCs have migrated from hindgut, compared to 93% in wild-type abnormal cell proliferation (J:115437) at E10.5, migratory PGCs in the hindgut are observed to proliferate
Genotype	Allelic Composition	Genetic Background
ht2	Kitl^Sl-gb/Kitl⁺	C3.Cg-Kitl^Sl-gb
hematopoietic system 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)

References

Original:	J:81206 Schaible RH, ""Grizzle-belly"" Mouse News Lett 1960;23():31
All:	9 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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