All Phenotypes Kitl<Sl-d> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kitl^Sl-d
steel Dickie
MGI:1856164

Summary

14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kitl^Sl-d/Kitl^Sl-d	C3.D2-Kitl^Sl-d	MGI:3794434
hm2	Kitl^Sl-d/Kitl^Sl-d	either: DBA/2J or (C57BL/6 x DBA/2)F1	MGI:2387001
hm3	Kitl^Sl-d/Kitl^Sl-d	Not Specified	MGI:2169624
ht4	Kitl^Sl-d/Kitl⁺	C3.D2-Kitl^Sl-d	MGI:3794435
ht5	Kitl^Sl-d/Kitl⁺	either: DBA/2J or (C57BL/6 x DBA/2)F1	MGI:2387002
ht6	Kitl^Sl-d/Kitl⁺	either: (involves: C57BL/6 * DBA/2J) or (involves: C3H * C57BL/6 * DBA/2J * WC)	MGI:3690620
ht7	Kitl^Sl-d/Kitl⁺	involves: DBA/2J	MGI:4431038
ht8	Kitl^Sl/Kitl^Sl-d	involves: C3H * C57BL/6 * DBA/2J * WC	MGI:3690619
ht9	Kitl^Sl-d/Kitl^Sl-18J	involves: C3H/HeJ * C57BL/6J * DBA/2J	MGI:5313517
ht10	Kitl^Sl/Kitl^Sl-d	involves: C57BL/6 * WC	MGI:2387022
ht11	Kitl^Sl/Kitl^Sl-d	(WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J	MGI:3690850
cx12	Kitl^Sl-d/Kitl^Sl-d Tg(Mt1-RET)304Ina/0	involves: BALB/c * C57BL/6 * DBA/2	MGI:5297720
cx13	Kitl^Sl-d/Kitl⁺ rs/rs	involves: C3H/HeJ * DBA/2J	MGI:4431074
cx14	Kitl^Sl-d/Kitl⁺ Ph/Ph⁺	involves: C57BL/Gr * DBA/2J	MGI:4431080

Allelic Composition	Kitl^Sl-d/Kitl^Sl-d
Genetic Background	C3.D2-Kitl^Sl-d

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

mortality/aging

mortality/aging ( J:79293 )

N	• homozygotes are viable with expected number of homozygotes observed at P1; 83% of mice survive to P18, similar to wild-type

hematopoietic system

macrocytic anemia ( J:79293 )

• severe at birth

low mean erythrocyte cell number ( J:79293 )

• significantly lower than wild-type at birth (32% of wild-type value)

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

increased mean corpuscular volume ( J:79293 )

• significantly increased compared to wild-type at P24-25

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

increased primordial germ cell 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 primordial germ cell migration ( J:115437 )

• at E10.5, only 45% of total PGCs have migrated from hindgut, compared to 93% in wild-type

decreased primordial germ 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)

cellular

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

increased primordial germ cell 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 primordial germ cell migration ( J:115437 )

• at E10.5, only 45% of total PGCs have migrated from hindgut, compared to 93% in wild-type

decreased primordial germ cell proliferation ( J:115437 )

Allelic Composition	Kitl^Sl-d/Kitl^Sl-d
Genetic Background	either: DBA/2J or (C57BL/6 x DBA/2)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

hematopoietic system

anemia ( J:13392 , J:20286 )

• mice display anemia (J:13392)

pigmentation

abnormal coat/hair pigmentation ( J:13392 , J:20286 )

• mice are white (with black eyes) (J:13392)

reproductive system

infertility ( J:13392 , J:20286 )

• mice are sterile (J:13392)

integument

abnormal coat/hair pigmentation ( J:13392 , J:20286 )

• mice are white (with black eyes) (J:13392)

Allelic Composition	Kitl^Sl-d/Kitl^Sl-d
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

embryo

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 )

Allelic Composition	Kitl^Sl-d/Kitl⁺
Genetic Background	C3.D2-Kitl^Sl-d

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

hematopoietic system

macrocytic anemia ( J:79293 )

• mild at birth

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 hemoglobin ( J:79293 )

• significantly increased compared to wild-type at P24-25

increased mean corpuscular volume ( J:79293 )

• significantly increased compared to wild-type at P24-25

pigmentation

abnormal ventral coat pigmentation ( J:79293 )

• diluted ventrum

head spot ( J:79293 )

integument

abnormal ventral coat pigmentation ( J:79293 )

• diluted ventrum

head spot ( J:79293 )

Allelic Composition	Kitl^Sl-d/Kitl⁺
Genetic Background	either: DBA/2J or (C57BL/6 x DBA/2)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

pigmentation

diluted coat color ( J:13392 )

• heterozygotes have a slightly diluted coat color

integument

diluted coat color ( J:13392 )

• heterozygotes have a slightly diluted coat color

Allelic Composition	Kitl^Sl-d/Kitl⁺
Genetic Background	either: (involves: C57BL/6 * DBA/2J) or (involves: C3H * C57BL/6 * DBA/2J * WC)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

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

Allelic Composition	Kitl^Sl-d/Kitl⁺
Genetic Background	involves: DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

hematopoietic system

macrocytic anemia ( J:125080 )

• mild macrocytic anemia

pigmentation

diluted coat color ( J:125080 )

• slightly diluted coat color is more noticeable on the belly

integument

diluted coat color ( J:125080 )

• slightly diluted coat color is more noticeable on the belly

Allelic Composition	Kitl^Sl/Kitl^Sl-d
Genetic Background	involves: C3H * C57BL/6 * DBA/2J * WC

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl mutation (3 available); any Kitl mutation (92 available)
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

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

Allelic Composition	Kitl^Sl-d/Kitl^Sl-18J
Genetic Background	involves: C3H/HeJ * C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-18J mutation (0 available); any Kitl mutation (92 available)
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)

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

integument

absent coat pigmentation ( J:78805 )

• the white coat accentuates the normal black eye color

pigmentation

absent coat pigmentation ( J:78805 )

• the white coat accentuates the normal black eye color

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

Find Mice

♀	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 )

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 )

Allelic Composition	Kitl^Sl/Kitl^Sl-d
Genetic Background	(WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J

Find Mice

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

Kitl^Sl/Kitl^Sl-d mouse

growth/size/body

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 osteoblast physiology ( J:111273 )

• in culture, primary osteoblasts display decreased mineralization compared to wild-type when both are treated with BMP-2

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 mineral content ( 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

decreased bone mineral 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%)

decreased trabecular bone volume ( J:111273 )

• cancellous bone volume/tissue volume is significantly reduced compared to wild-type

decreased compact 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

hematopoietic system

increased erythrocyte protoporphyrin level ( 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 erythrocyte protoporphyrin level ( J:5985 )

• moderate but significant increase in protoporphrin levels in red blood cells compared to controls

cellular

abnormal osteoblast physiology ( J:111273 )

• in culture, primary osteoblasts display decreased mineralization compared to wild-type when both are treated with BMP-2

Allelic Composition	Kitl^Sl-d/Kitl^Sl-d Tg(Mt1-RET)304Ina/0
Genetic Background	involves: BALB/c * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)
Tg(Mt1-RET)304Ina mutation (2 available)

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

neoplasm

increased melanoma incidence ( J:88074 )

• while fewer mutants develop malanocytic tumors than single Tg(Mt1-RET)304Ina/0 mice, mutants develop more malanocytic tumors than in wild-type controls

decreased tumor incidence ( J:88074 )

• mutants exhibit suppression of melanoma development compared to single Tg(Mt1-RET)304Ina/0 mice, with fewer mutants developing melanocytic tumors and prolonged survival

Allelic Composition	Kitl^Sl-d/Kitl⁺ rs/rs
Genetic Background	involves: C3H/HeJ * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)
rs mutation (1 available); any rs mutation (3 available)

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

pigmentation

absent coat pigmentation ( J:125080 )

• completely white coat

integument

absent coat pigmentation ( J:125080 )

• completely white coat

Allelic Composition	Kitl^Sl-d/Kitl⁺ Ph/Ph⁺
Genetic Background	involves: C57BL/Gr * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kitl^Sl-d mutation (3 available); any Kitl mutation (92 available)
Ph mutation (2 available); any Ph mutation (1 available)

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

pigmentation

abnormal coat/hair pigmentation ( J:125080 )

• the head and shoulder region have diluted pigment, and the rest of the body is white although some pigment patches do occur

irregular coat pigmentation ( J:125080 )

head spot ( J:125080 )

• a small head spot is found occasionally

integument

abnormal coat/hair pigmentation ( J:125080 )

• the head and shoulder region have diluted pigment, and the rest of the body is white although some pigment patches do occur

irregular coat pigmentation ( J:125080 )

head spot ( J:125080 )

• a small head spot is found occasionally

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