Phenotypes associated with this allele

• Allele Symbol: Kit^W-v
• Allele Name: viable dominant spotting
• Allele ID: MGI:1856266
• Summary: 38 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^W-v/Kit^W-v	C57BL/6J-Kit^W-v/J	MGI:3840691
hm2	Kit^W-v/Kit^W-v	involves: C57BL/6	MGI:2387549
hm3	Kit^W-v/Kit^W-v	involves: CBA/Ca	MGI:3576720
hm4	Kit^W-v/Kit^W-v	Not Specified	MGI:2173380
ht5	Kit^W-v/Kit^+	involves: C57BL	MGI:5000282
ht6	Kit^W-v/Kit^+	involves: C57BL/6	MGI:2387551
ht7	Kit^W-v/Kit^+	involves: C57BL * C57BL/6	MGI:3813828
ht8	Kit^W-v/Kit^+	involves: C57BL * DBA	MGI:4431037
ht9	Kit^W-v/Kit^+	Not Specified	MGI:3842474
ht10	Kit^W-sh/Kit^W-v	involves: 101/H * C3H/HeH	MGI:3711169
ht11	Kit^W/Kit^W-v	involves: C57BL	MGI:2684689
ht12	Kit^W/Kit^W-v	involves: C57BL/6	MGI:5307249
ht13	Kit^W/Kit^W-v	involves: C57BL/6J	MGI:3771729
ht14	Kit^W-Bs/Kit^W-v	involves: C57BL/6J	MGI:5466409
ht15	Kit^W/Kit^W-v	involves: C57BL/6 * WB	MGI:2387552
ht16	Kit^W-39J/Kit^W-v	involves: C57BL * C57BL/6J	MGI:3813686
ht17	Kit^W/Kit^W-v	involves: C57BL * C57BL/6 * WB	MGI:3813557
ht18	Kit^W-83J/Kit^W-v	involves: DLS/LeJ * MWT/Le	MGI:3813726
ht19	Kit^W-pw/Kit^W-v	involves: STOCK Prop1^df Myo5a^d Bmp5^se	MGI:3053027
ht20	Kit^W/Kit^W-v	Not Specified	MGI:2171276
ht21	Kit^W/Kit^W-v	(WB Kit^W x B6.Cg-Kit^W-v)F1	MGI:5307250
ht22	Kit^W/Kit^W-v	(WB/ReJ x C57BL/6J-Kit^W-v/J)F1-Kit^W/Kit^W-v/J	MGI:3665485
cn23	Amhr2^tm3(cre)Bhr/Amhr2^+ Kit^W-v/Kit^W-v Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J * FVB/N	MGI:5811264
cn24	Kit^W-v/Kit^W-v Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:5811262
cx25	Kit^W-v/Kit^+ Rw/Rw^+	involves: 101/H * C3H/HeH * C57BL	MGI:4431075
cx26	Kit^W-v/Kit^W-v Ly6a^tm1Pmf/Ly6a^tm1Pmf	involves: 129P2/OlaHsd * C57BL/6	MGI:3815027
cx27	Kit^W-v/Kit^+ Snai2^tm2Grid/Snai2^tm2Grid	involves: 129S1/Sv * C57BL	MGI:2652596
cx28	Kit^W-v/Kit^+ Snai2^tm2Grid/Snai2^+	involves: 129S1/Sv * C57BL	MGI:2652598
cx29	Cdkn1b^tm1Ako/Cdkn1b^tm1Ako Kit^W-v/Kit^W-v	involves: 129S1/Sv * C57BL/6J	MGI:5811260
cx30	Cdkn1b^tm1Ako/Cdkn1b^+ Kit^W-v/Kit^W-v	involves: 129S1/Sv * C57BL/6J	MGI:5811261
cx31	Il3^tm1Glli/Il3^tm1Glli Kit^W/Kit^W-v	involves: 129S2/SvPas * C57BL/6 * WB	MGI:3586341
cx32	Flt3^tm1Irl/Flt3^tm1Irl Kit^W/Kit^W-v	involves: 129S/SvEv * C57BL/6	MGI:3663023
cx33	Kit^W-v/Kit^+ X/Sry^AKR/J	involves: AKR/J * C57BL/6J	MGI:3778813
cx34	Kit^W-v/Kit^W-v Tg(Mt1-RET)304Ina/0	involves: BALB/c * C57BL/6	MGI:5297718
cx35	Kit^W-v/Kit^+ Tg(Mt1-RET)304Ina/0	involves: BALB/c * C57BL/6	MGI:5297719
cx36	Kit^W-v/Kit^+ Rps19^Mhdadsk3/Rps19^+	involves: C3HeB/FeJ * C57BL/6J	MGI:6260000
cx37	Kit^W-v/Kit^+ Ph/Ph^+	involves: C57BL	MGI:4431077
cx38	Fbn1^Tsk/Fbn1^+ Kit^W/Kit^W-v	involves: C57BL/6 * C57BL/10 * DBA/2 * WB/ReJ	MGI:3619905

Genotype
MGI:3840691

hm1

• Allelic Composition: Kit^W-v/Kit^W-v
• Genetic Background: C57BL/6J-Kit^W-v/J

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

growth/size/body

decreased body weight ( J:243758 )

• weights are normal at embryonic day 16 but by birth the body weight is retarded behind that of wildtype siblings and by 14 days of age there is more than a gram difference in average total body weight and this growth impairment continues to keep these homozygotes smaller than wild-type littermates in the adult

hematopoietic system

macrocytic anemia ( J:243758 )

• identified as early as embryonic day 16, the earliest timepoint assessed, and the severity is milder than in W/W homozygotes or compound heterozgyotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
macrocytic anemia		DOID:2361		J:243758

Genotype
MGI:2387549

hm2

• Allelic Composition: Kit^W-v/Kit^W-v
• Genetic Background: involves: C57BL/6

hematopoietic system

macrocytic anemia ( J:3400 )

homeostasis/metabolism

increased bleeding time ( J:7327 )

• bleed time of 6.9 minutes on average after tail nick is longer than the 3.8 minutes in C57BL/6J controls

Genotype
MGI:3576720

hm3

• Allelic Composition: Kit^W-v/Kit^W-v
• Genetic Background: involves: CBA/Ca

hearing/vestibular/ear

abnormal ear pigmentation ( J:4062 )

• about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

• no strial pigmentation in mutants that lack an endocochlear potential

abnormal stria vascularis morphology ( J:4062 )

abnormal stria vascularis vasculature morphology ( J:4062 )

• the capillary network is poorly developed

abnormal strial basal cell morphology ( J:4062 )

• basal cells have no cytoplasmic projections

• basal cells of the stria vascularis do not contain premelanosomes or melanosomes

absent strial intermediate cells ( J:4062 )

• no pigment is present

• 89% lack melanocytes within the stria vascularis

abnormal strial marginal cell morphology ( J:4062 )

• marginal cells have poorly developed basolateral projections

thin stria vascularis ( J:4062 )

• strias are noticeably thinner and are reduced to a two-layered tissue composed only of marginal and basal cells

absent endocochlear potential ( J:4062 )

• 89% of homozygous mutants lack an endocochlear potential

pigmentation

abnormal ear pigmentation ( J:4062 )

• about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

• no strial pigmentation in mutants that lack an endocochlear potential

abnormal melanocyte morphology ( J:4062 )

• no melanocytes detected in dorsal skin or in hair follicles

absent strial intermediate cells ( J:4062 )

• no pigment is present

• 89% lack melanocytes within the stria vascularis

abnormal melanosome morphology ( J:4062 )

• in mutants that do have endocochlear potential, melanin granules were rarely observed and no melanosomes were detected in marginal or basal cells

cardiovascular system

abnormal stria vascularis vasculature morphology ( J:4062 )

• the capillary network is poorly developed

craniofacial

abnormal ear pigmentation ( J:4062 )

• about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

• no strial pigmentation in mutants that lack an endocochlear potential

integument

abnormal ear pigmentation ( J:4062 )

• about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

• no strial pigmentation in mutants that lack an endocochlear potential

growth/size/body

abnormal ear pigmentation ( J:4062 )

• about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

• no strial pigmentation in mutants that lack an endocochlear potential

Genotype
MGI:2173380

hm4

• Allelic Composition: Kit^W-v/Kit^W-v
• Genetic Background: Not Specified

hearing/vestibular/ear

abnormal ear pigmentation ( J:5179 )

• abnormal pigmentation in the inner ear such as unpigmented stria

abnormal cochlea morphology ( J:5179 )

• variable cochlea defects that increased in severity as mutants aged

abnormal organ of Corti morphology ( J:5179 )

• form of the organ of Corti was completely changed with no recognizable structure remaining in mutants older than 300 days

abnormal cochlear outer hair cell morphology ( J:5179 )

• outer hair cells in the organ of Corti were mostly missing or malformed

abnormal stria vascularis morphology ( J:5179 )

abnormal stria vascularis vasculature morphology ( J:5179 )

• vascularity was reduced

thin stria vascularis ( J:5179 )

• thinner than normal

abnormal tectorial membrane morphology ( J:5179 )

• the tectorial membrane was distorted and no longer in contact with the organ of Corti

• the tectorial membrane grew thicker and was usually attached to Reissner's membrane by 300 days of age

vestibular hair cell degeneration ( J:5179 )

• some hair cells in the macula were lost and many others became enlarged and spherical

abnormal vestibular saccule morphology ( J:5179 )

• variable saccule defects that increased in severity as mutants aged

abnormal otolith morphology ( J:5179 )

• increase in the amount of otoliths

enlarged otoliths ( J:5179 )

• otolith granules were larger

nervous system

abnormal cochlear outer hair cell morphology ( J:5179 )

• outer hair cells in the organ of Corti were mostly missing or malformed

vestibular hair cell degeneration ( J:5179 )

• some hair cells in the macula were lost and many others became enlarged and spherical

abnormal cochlear ganglion morphology ( J:5179 )

• about 50% had abnormal spiral ganglion, with cells appearing immature and occurring in clumps in certain regions

cochlear ganglion degeneration ( J:5179 )

• reduced cell density and severe degeneration in mutants over 140 days old so that spiral canal was virtually empty

pigmentation

abnormal ear pigmentation ( J:5179 )

• abnormal pigmentation in the inner ear such as unpigmented stria

abnormal coat/hair pigmentation ( J:2447 )

• mice are white with contrasting but normal black eye color

cardiovascular system

abnormal stria vascularis vasculature morphology ( J:5179 )

• vascularity was reduced

craniofacial

abnormal ear pigmentation ( J:5179 )

• abnormal pigmentation in the inner ear such as unpigmented stria

integument

abnormal ear pigmentation ( J:5179 )

• abnormal pigmentation in the inner ear such as unpigmented stria

abnormal coat/hair pigmentation ( J:2447 )

• mice are white with contrasting but normal black eye color

reproductive system

reduced fertility ( J:2447 )

growth/size/body

abnormal ear pigmentation ( J:5179 )

• abnormal pigmentation in the inner ear such as unpigmented stria

Genotype
MGI:5000282

ht5

• Allelic Composition: Kit^W-v/Kit⁺
• Genetic Background: involves: C57BL

pigmentation

diluted coat color ( J:2447 )

• slightly diluted coat color

variable body spotting ( J:2447 )

• variable amount of white spotting

integument

diluted coat color ( J:2447 )

• slightly diluted coat color

variable body spotting ( J:2447 )

• variable amount of white spotting

reproductive system

reproductive system phenotype ( J:2447 )

N • fertile

Genotype
MGI:2387551

ht6

• Allelic Composition: Kit^W-v/Kit⁺
• Genetic Background: involves: C57BL/6

hematopoietic system

macrocytic anemia ( J:3400 )

• slightly macrocytic

Genotype
MGI:3813828

ht7

• Allelic Composition: Kit^W-v/Kit⁺
• Genetic Background: involves: C57BL * C57BL/6

immune system

decreased mast cell number ( J:27513 )

• mice exhibit fewer mast cells in the skin than wild-type mice

hematopoietic system

decreased erythrocyte cell number ( J:27513 )

decreased mast cell number ( J:27513 )

• mice exhibit fewer mast cells in the skin than wild-type mice

pigmentation

diluted coat color ( J:27513 )

white spotting ( J:27513 )

integument

diluted coat color ( J:27513 )

white spotting ( J:27513 )

Genotype
MGI:4431037

ht8

• Allelic Composition: Kit^W-v/Kit⁺
• Genetic Background: involves: C57BL * DBA

pigmentation

diluted coat color ( J:125080 )

belly spot ( J:125080 )

• a spot is always present on the belly

head spot ( J:125080 )

• a head spot frequently but not always occurs

hematopoietic system

macrocytic anemia ( J:125080 )

• mild macrocytic anemia

integument

diluted coat color ( J:125080 )

belly spot ( J:125080 )

• a spot is always present on the belly

head spot ( J:125080 )

• a head spot frequently but not always occurs

Genotype
MGI:3842474

ht9

• Allelic Composition: Kit^W-v/Kit⁺
• Genetic Background: Not Specified

pigmentation

abnormal coat/hair pigmentation ( J:2447 )

diluted coat color ( J:2447 )

• slightly diluted coat color

variable body spotting ( J:2447 )

• variable amounts of white spotting

integument

abnormal coat/hair pigmentation ( J:2447 )

diluted coat color ( J:2447 )

• slightly diluted coat color

variable body spotting ( J:2447 )

• variable amounts of white spotting

reproductive system

reproductive system phenotype ( J:2447 )

N • fertile

Genotype
MGI:3711169

ht10

• Allelic Composition: Kit^W-sh/Kit^W-v
• Genetic Background: involves: 101/H * C3H/HeH

hematopoietic system

abnormal definitive hematopoiesis ( J:6857 )

macrocytic anemia ( J:6857 )

• anemia is mild

abnormal erythrocyte cell number ( J:6857 )

decreased erythrocyte cell number ( J:6857 )

pigmentation

abnormal coat/hair pigmentation ( J:6857 )

• most mice had classic white coat and black eyes

• some had small patches of pigmented hair on the ears

absent coat pigmentation ( J:6857 )

integument

abnormal coat/hair pigmentation ( J:6857 )

• most mice had classic white coat and black eyes

• some had small patches of pigmented hair on the ears

absent coat pigmentation ( J:6857 )

Genotype
MGI:2684689

ht11

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: involves: C57BL

cellular

azoospermia ( J:4972 )

digestive/alimentary system

abnormal interstitial cell of Cajal morphology ( J:70182 )

• absence of intramuscular interstitial cells of Cajal from the lower esophageal sphincter

abnormal digestive system physiology ( J:70182 )

• the mean resting lower esophageal sphincter pressure is significantly lower

muscle

abnormal muscle physiology ( J:70182 )

• the mean resting lower esophageal sphincter pressure is significantly lower

reproductive system

azoospermia ( J:4972 )

Genotype
MGI:5307249

ht12

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: involves: C57BL/6

immune system

immune system phenotype ( J:178942 )

N • after 6 weeks of exposure to phorbol myristate acetate (PMA), a 10 to 100 fold increase in mast cells in the normally deficient skin is observed; wild-type mice exhibit a 3-4-fold increase following chronic inflammation

decreased basophil cell number ( J:178942 )

• mice show reduced numbers of splenic basophils

decreased mast cell number ( J:178942 )

• mice have no peritoneal or connective tissue mast cells

hematopoietic system

decreased basophil cell number ( J:178942 )

• mice show reduced numbers of splenic basophils

decreased mast cell number ( J:178942 )

• mice have no peritoneal or connective tissue mast cells

Genotype
MGI:3771729

ht13

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: involves: C57BL/6J

Accumulation of lipids in the liver of Kit^W/Kit^W-v mice

growth/size/body

decreased body weight ( J:243758 )

• weights are normal at embryonic day 16 but by birth the body weight is retarded behind that of wildtype siblings and by 14 days of age the average weight is almost 2 grams less than wildtype siblings

hematopoietic system

macrocytic anemia ( J:243758 )

• identified as early as embryonic day 16, the earliest timepoint assessed, and the severity is slighly less than in W homozygotes and more severe than in W-v homozygotes

mortality/aging

preweaning lethality, incomplete penetrance ( J:243758 )

• only 65% of compound heterozygotes identified at birth survived to 21 days of age

liver/biliary system

hepatic steatosis ( J:125831 )

• seen in P7.5 mutants and adults

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
macrocytic anemia		DOID:2361		J:243758

Genotype
MGI:5466409

ht14

• Allelic Composition: Kit^W-Bs/Kit^W-v
• Genetic Background: involves: C57BL/6J

hematopoietic system

anemia ( J:157 )

integument

abnormal coat/hair pigmentation ( J:157 )

• classic white coat of a Kit allele; eyes are normal black color

pigmentation

abnormal coat/hair pigmentation ( J:157 )

• classic white coat of a Kit allele; eyes are normal black color

Genotype
MGI:2387552

ht15

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: involves: C57BL/6 * WB

digestive/alimentary system

increased esophageal papilloma incidence ( J:6393 )

• observed papillomas in the lower end of the esophagus but not in the upper two-thirds of the esophagus

peptic ulcer ( J:6393 )

• 40% developed prepyloric ulcer, however no duodenal ulcers were found

neoplasm

increased papilloma incidence ( J:6393 )

• 40% developed forestomach papillomas

increased esophageal papilloma incidence ( J:6393 )

• observed papillomas in the lower end of the esophagus but not in the upper two-thirds of the esophagus

immune system

abnormal response to transplant ( J:6084 )

• after receiving splenocytes from Kitl/Kitl donors, 15 weeks later, mice exhibit significant increase in mast cell numbers in skin, stomach and mesentery

• after receiving skin grafts from Kitl/Kitl donors, no increase in mast cell number in skin is seen, compared to increase observed in reciprocal transplant

Genotype
MGI:3813686

ht16

• Allelic Composition: Kit^W-39J/Kit^W-v
• Genetic Background: involves: C57BL * C57BL/6J

reproductive system

abnormal ovarian follicle number ( J:6571 )

♀ • ovaries contain fewer developing follicles than in wild-type mice

small ovary ( J:6571 )

♀

small testis ( J:6571 )

♂

delayed female fertility ( J:6571 )

reduced fertility ( J:6571 )

endocrine/exocrine glands

abnormal ovarian follicle number ( J:6571 )

♀ • ovaries contain fewer developing follicles than in wild-type mice

small ovary ( J:6571 )

♀

small testis ( J:6571 )

♂

pigmentation

absent coat pigmentation ( J:6571 )

• mice are black-eyed with white coats

integument

absent coat pigmentation ( J:6571 )

• mice are black-eyed with white coats

Genotype
MGI:3813557

ht17

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: involves: C57BL * C57BL/6 * WB

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:125964 )

• unlike in wild type mice, all mice treated with ET-1 die by 60 minutes

increased susceptibility to xenobiotic induced morbidity/mortality ( J:125964 )

• all mice die following treatment with S6b unlike wild type mice

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:125964 )

• unlike in wild type mice, all mice treated with ET-1 die by 60 minutes

increased susceptibility to xenobiotic induced morbidity/mortality ( J:125964 )

• all mice die following treatment with S6b unlike wild type mice

Genotype
MGI:3813726

ht18

• Allelic Composition: Kit^W-83J/Kit^W-v
• Genetic Background: involves: DLS/LeJ * MWT/Le

pigmentation

absent coat pigmentation ( J:28843 )

• mice are black-eyed with white coats

integument

absent coat pigmentation ( J:28843 )

• mice are black-eyed with white coats

Genotype
MGI:3053027

ht19

• Allelic Composition: Kit^W-pw/Kit^W-v
• Genetic Background: involves: STOCK Prop1^df Myo5a^d Bmp5^se

pigmentation

absent coat pigmentation ( J:13655 )

• mice are white with black eyes

reproductive system

female infertility ( J:13655 )

♀

male infertility ( J:13655 )

♂

integument

absent coat pigmentation ( J:13655 )

• mice are white with black eyes

Genotype
MGI:2171276

ht20

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: Not Specified

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:210656 )

• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of sertoli cell tight junction barrier dysfunction

reproductive system

abnormal Sertoli cell morphology ( J:210656 )

• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of sertoli cell tight junction barrier dysfunction

abnormal caput epididymis morphology ( J:290452 )

♂ • impaired initial segment differentiation

epididymis degeneration ( J:335479 )

• degenerating initial segment

Genotype
MGI:5307250

ht21

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: (WB Kit^W x B6.Cg-Kit^W-v)F1

immune system

decreased susceptibility to type I hypersensitivity reaction ( J:197334 )

• following passive systemic anaphylaxis induced by IgE antigen challenge, mice fail to exhibit increased plasma histamine levels or temporary decrease in rectal temperature unlike wild-type mice

decreased susceptibility to induced arthritis ( J:178942 )

• after receiving i.p. injections of K/BxN mouse serum in an antibody-induced (autoimmune) arthritis model, mice are protected from arthritis, except for mild and transient symptoms

skeleton

decreased susceptibility to induced arthritis ( J:178942 )

• after receiving i.p. injections of K/BxN mouse serum in an antibody-induced (autoimmune) arthritis model, mice are protected from arthritis, except for mild and transient symptoms

homeostasis/metabolism

abnormal circulating histamine level ( J:197334 )

• following passive systemic anaphylaxis induced by IgE antigen challenge, mice fail to exhibit increased plasma histamine levels unlike wild-type mice

abnormal body temperature ( J:197334 )

• following passive systemic anaphylaxis induced by IgE antigen challenge, mice fail to exhibit temporary decrease in rectal temperature unlike wild-type mice

Genotype
MGI:3665485

ht22

• Allelic Composition: Kit^W/Kit^W-v
• Genetic Background: (WB/ReJ x C57BL/6J-Kit^W-v/J)F1-Kit^W/Kit^W-v/J

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:113500 )

• significantly higher mortality is exhibited by mutants (88%) by day 21 after induction of anti-glomerular basement membrane glomerulonephritis than wild-type (25%)

cardiovascular system

abnormal response to cardiac infarction ( J:106065 )

• exhibit worse heart function and greater cardiac dilatation at 35 days after myocardial infarction than wild-type, showing decreased left ventricle end-systolic pressure and left ventricle thickness, increased left ventricle end-systolic volume, heart-to-body weight ratio, septal wall thickness, percentage of left ventricle infracted and collagen content, and significantly different stoke volume, and positive and negative dp/dt

• wild-type bone marrow transplanted into mutant mice rescues the adverse cardiac remodeling and impaired cardiac function after myocardial infarction and shows increased mobilization of angiogenic and natural killer cells

increased myocardial infarct size ( J:106065 )

• 35 days after myocardial infarction show increased percentage of left ventricle infracted

decreased vascular permeability ( J:84660 )

• do not display increased vascular permeability in the dura mater in response to acute restrain stress as is seen in wild-type controls

homeostasis/metabolism

abnormal response to cardiac infarction ( J:106065 )

• exhibit worse heart function and greater cardiac dilatation at 35 days after myocardial infarction than wild-type, showing decreased left ventricle end-systolic pressure and left ventricle thickness, increased left ventricle end-systolic volume, heart-to-body weight ratio, septal wall thickness, percentage of left ventricle infracted and collagen content, and significantly different stoke volume, and positive and negative dp/dt

• wild-type bone marrow transplanted into mutant mice rescues the adverse cardiac remodeling and impaired cardiac function after myocardial infarction and shows increased mobilization of angiogenic and natural killer cells

increased myocardial infarct size ( J:106065 )

• 35 days after myocardial infarction show increased percentage of left ventricle infracted

increased erythrocyte protoporphyrin level ( J:5985 )

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

abnormal interferon level ( J:131785 )

• treatment with Hrh4 antagonist (JNJ 10191584) during ovalbumin challenge results in decreased levels of IFN-gamma

abnormal interleukin level ( J:131785 )

• treatment with Hrh4 antagonist (JNJ 10191584) during ovalbumin challenge results in decreased levels of IL-4 (51%), IL-5 (35%), IL-6 (39%), and IL-17 (39%) in cultured peribronchiolar lymph nodes

increased urine protein level ( J:113500 )

• mice develop increased proteinuria compared to wild-type, 7 and 14 days after induction of anti-glomerular basement membrane (GBM) glomerulonephritis (GN)

abnormal response/metabolism to endogenous compounds ( J:123463 )

• mice exhibit reduced adenosine-induced airway responsiveness compared with wild-type mice

immune system

immune system phenotype ( J:125656 )

N • sensitized mice have a normal early phase reaction (initial phase of bronchoconstriction) after ovalbumin challenge

impaired neutrophil recruitment ( J:123463 )

• mice fail to exhibit adenosine-induced neutrophil recruitment unlike wild-type mice

abnormal interferon level ( J:131785 )

• treatment with Hrh4 antagonist (JNJ 10191584) during ovalbumin challenge results in decreased levels of IFN-gamma

abnormal interleukin level ( J:131785 )

• treatment with Hrh4 antagonist (JNJ 10191584) during ovalbumin challenge results in decreased levels of IL-4 (51%), IL-5 (35%), IL-6 (39%), and IL-17 (39%) in cultured peribronchiolar lymph nodes

decreased inflammatory response ( J:131785 )

• treatment with Hrh4 antagonist (JNJ 10191584) during ovalbumin challenge results in decreased total bronchoalveolar lavage cell numbers (54%) and eosinophils (75%)

kidney inflammation ( J:113500 )

• more T cells and macrophages infiltrate kidneys compared to control mice; increased numbers of CD4+ T cells and macrophages are found in glomeruli compared to controls on day 14 after anti-GBM GN

renal/urinary system

increased urine protein level ( J:113500 )

• mice develop increased proteinuria compared to wild-type, 7 and 14 days after induction of anti-glomerular basement membrane (GBM) glomerulonephritis (GN)

kidney inflammation ( J:113500 )

• more T cells and macrophages infiltrate kidneys compared to control mice; increased numbers of CD4+ T cells and macrophages are found in glomeruli compared to controls on day 14 after anti-GBM GN

abnormal renal glomerulus morphology ( J:113500 )

• in mice there is accumulation of PAS stain-positive material as well as crescent formation in glomeruli, compared to wild-type

glomerular crescent ( J:113500 )

• crescent formation in glomeruli

hematopoietic system

increased erythrocyte protoporphyrin level ( J:5985 )

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

impaired neutrophil recruitment ( J:123463 )

• mice fail to exhibit adenosine-induced neutrophil recruitment unlike wild-type mice

respiratory system

decreased airway responsiveness ( J:123463 )

• mice exhibit reduced adenosine-induced airway responsiveness and neutrophil recruitment compared with wild-type mice

Genotype
MGI:5811264

cn23

• Allelic Composition: Amhr2^tm3(cre)Bhr/Amhr2⁺; Kit^W-v/Kit^W-v; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J * FVB/N

neoplasm

increased ovary tumor incidence ( J:236161 )

• ovarian tumors are seen in 3-12 month old mice

• tumors are bilateral and larger than those of Kit homozygous mutants and are almost entirely positive for cytokeratin 8, suggesting epithelial origin and show active proliferation

increased granulosa cell tumor incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

increased ovary adenoma incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

endocrine/exocrine glands

increased ovary tumor incidence ( J:236161 )

• ovarian tumors are seen in 3-12 month old mice

• tumors are bilateral and larger than those of Kit homozygous mutants and are almost entirely positive for cytokeratin 8, suggesting epithelial origin and show active proliferation

increased granulosa cell tumor incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

increased ovary adenoma incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

reproductive system

increased ovary tumor incidence ( J:236161 )

• ovarian tumors are seen in 3-12 month old mice

• tumors are bilateral and larger than those of Kit homozygous mutants and are almost entirely positive for cytokeratin 8, suggesting epithelial origin and show active proliferation

increased granulosa cell tumor incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

increased ovary adenoma incidence ( J:236161 )

• about 50% of ovaries contain mixed epithelial and granulosa tumors

Genotype
MGI:5811262

cn24

• Allelic Composition: Kit^W-v/Kit^W-v; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

neoplasm

increased ovary tumor incidence ( J:236161 )

• mice injected with an adenovirus-expressing Cre recombinase (Ad-Cre) into the ovarian bursa at 2 months of age exhibit enhanced growth of ovarian tumors compared to single homozygous Kit mutants, however, no metastasis or spreading of the tubular adenomas is seen in most mice

• tumors in Ad-Cre injected mice are largely epithelial in origin and similar to human serous ovarian cancer

• 3 of 12 mice injected with Ad-Cre into the ovarian bursa develop aggressive tumors

endocrine/exocrine glands

increased ovary tumor incidence ( J:236161 )

• mice injected with an adenovirus-expressing Cre recombinase (Ad-Cre) into the ovarian bursa at 2 months of age exhibit enhanced growth of ovarian tumors compared to single homozygous Kit mutants, however, no metastasis or spreading of the tubular adenomas is seen in most mice

• tumors in Ad-Cre injected mice are largely epithelial in origin and similar to human serous ovarian cancer

• 3 of 12 mice injected with Ad-Cre into the ovarian bursa develop aggressive tumors

ovary cyst ( J:236161 )

• mice injected with Ad-Cre into the ovarian bursa show ovaries that commonly contain cysts of hemorrhage appearance

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

reproductive system

increased ovary tumor incidence ( J:236161 )

• mice injected with an adenovirus-expressing Cre recombinase (Ad-Cre) into the ovarian bursa at 2 months of age exhibit enhanced growth of ovarian tumors compared to single homozygous Kit mutants, however, no metastasis or spreading of the tubular adenomas is seen in most mice

• tumors in Ad-Cre injected mice are largely epithelial in origin and similar to human serous ovarian cancer

• 3 of 12 mice injected with Ad-Cre into the ovarian bursa develop aggressive tumors

ovary cyst ( J:236161 )

• mice injected with Ad-Cre into the ovarian bursa show ovaries that commonly contain cysts of hemorrhage appearance

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

growth/size/body

ovary cyst ( J:236161 )

• mice injected with Ad-Cre into the ovarian bursa show ovaries that commonly contain cysts of hemorrhage appearance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:236161

Genotype
MGI:4431075

cx25

• Allelic Composition: Kit^W-v/Kit⁺; Rw/Rw⁺
• Genetic Background: involves: 101/H * C3H/HeH * C57BL

pigmentation

abnormal coat/hair pigmentation ( J:125080 )

• the top of the head is white and there is some heavily diluted fur on the sides of the head and some dorsal regions of the body

irregular coat pigmentation ( J:125080 )

head spot ( J:125080 )

integument

abnormal coat/hair pigmentation ( J:125080 )

• the top of the head is white and there is some heavily diluted fur on the sides of the head and some dorsal regions of the body

irregular coat pigmentation ( J:125080 )

head spot ( J:125080 )

Genotype
MGI:3815027

cx26

• Allelic Composition: Kit^W-v/Kit^W-v; Ly6a^tm1Pmf/Ly6a^tm1Pmf
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

embryonic lethality, incomplete penetrance ( J:81387 )

• there is an 84% reduction in the number of compound homozygotes born compared to the number expected from Mendelian frequencies

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:81387 )

• E14 embryos have dramatically reduced CFU-Cs

anemia ( J:81387 )

• E14 embryos are very anemic

Genotype
MGI:2652596

cx27

• Allelic Composition: Kit^W-v/Kit⁺; Snai2^tm2Grid/Snai2^tm2Grid
• Genetic Background: involves: 129S1/Sv * C57BL

pigmentation

variable body spotting ( J:80529 )

• extensive white spotting of coat was noted from birth

integument

variable body spotting ( J:80529 )

• extensive white spotting of coat was noted from birth

Genotype
MGI:2652598

cx28

• Allelic Composition: Kit^W-v/Kit⁺; Snai2^tm2Grid/Snai2⁺
• Genetic Background: involves: 129S1/Sv * C57BL

pigmentation

variable body spotting ( J:80529 )

• extensive white spotting of coat was noted from birth

integument

variable body spotting ( J:80529 )

• extensive white spotting of coat was noted from birth

Genotype
MGI:5811260

cx29

• Allelic Composition: Cdkn1b^tm1Ako/Cdkn1b^tm1Ako; Kit^W-v/Kit^W-v
• Genetic Background: involves: 129S1/Sv * C57BL/6J

neoplasm

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% or less of granulosa cells

endocrine/exocrine glands

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% or less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

reproductive system

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% or less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:236161

Genotype
MGI:5811261

cx30

• Allelic Composition: Cdkn1b^tm1Ako/Cdkn1b⁺; Kit^W-v/Kit^W-v
• Genetic Background: involves: 129S1/Sv * C57BL/6J

mortality/aging

premature death ( J:236161 )

• sudden death is frequently seen

neoplasm

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

endocrine/exocrine glands

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

reproductive system

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:236161

Genotype
MGI:3586341

cx31

• Allelic Composition: Il3^tm1Glli/Il3^tm1Glli; Kit^W/Kit^W-v
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * WB

immune system

increased susceptibility to parasitic infection ( J:80500 )

• particularly significant delay in expulsion of parasites - Strongyloides venezuelensis

Genotype
MGI:3663023

cx32

• Allelic Composition: Flt3^tm1Irl/Flt3^tm1Irl; Kit^W/Kit^W-v
• Genetic Background: involves: 129S/SvEv * C57BL/6

growth/size/body

decreased body weight ( J:27238 )

• slightly reduced body weight

hematopoietic system

thymus hypoplasia ( J:27238 )

abnormal blood cell morphology/development ( J:27238 )

abnormal common myeloid progenitor cell morphology ( J:27238 )

• absolute numbers of myeloid progenitors reduced 8 fold

abnormal myelopoiesis ( J:27238 )

• myeloid lineages are reduced in numbers

decreased bone marrow cell number ( J:27238 )

• reduced cellularity

abnormal leukocyte morphology ( J:27238 )

decreased pro-B cell number ( J:27238 )

• greater reduction in numbers

abnormal T cell number ( J:27238 )

• proportion of CD4 and CD8 single positive T cells is increased 2 fold

• absolute numbers of single positive cells reduced 4 fold

decreased double-negative T cell number ( J:27238 )

• severely restricted in numbers

decreased double-positive T cell number ( J:27238 )

• severely restricted in numbers

decreased lymphocyte cell number ( J:27238 )

• lymphoid lineages are reduced in numbers

decreased B cell number ( J:27238 )

• 10% reduction

• absolute numbers reduced 16%

decreased pre-B cell number ( J:27238 )

• greater reduction

immune system

thymus hypoplasia ( J:27238 )

abnormal myelopoiesis ( J:27238 )

• myeloid lineages are reduced in numbers

abnormal leukocyte morphology ( J:27238 )

decreased pro-B cell number ( J:27238 )

• greater reduction in numbers

abnormal T cell number ( J:27238 )

• proportion of CD4 and CD8 single positive T cells is increased 2 fold

• absolute numbers of single positive cells reduced 4 fold

decreased double-negative T cell number ( J:27238 )

• severely restricted in numbers

decreased double-positive T cell number ( J:27238 )

• severely restricted in numbers

decreased lymphocyte cell number ( J:27238 )

• lymphoid lineages are reduced in numbers

decreased B cell number ( J:27238 )

• 10% reduction

• absolute numbers reduced 16%

decreased pre-B cell number ( J:27238 )

• greater reduction

endocrine/exocrine glands

thymus hypoplasia ( J:27238 )

Genotype
MGI:3778813

cx33

• Allelic Composition: Kit^W-v/Kit⁺; X/Sry^AKR/J
• Genetic Background: involves: AKR/J * C57BL/6J

endocrine/exocrine glands

decreased testis weight ( J:133266 )

♂ • Background Sensitivity: in the presence of Sry^AKR/J on a C57BL/6 background testes weight is less than normal

reproductive system

decreased testis weight ( J:133266 )

♂ • Background Sensitivity: in the presence of Sry^AKR/J on a C57BL/6 background testes weight is less than normal

Genotype
MGI:5297718

cx34

• Allelic Composition: Kit^W-v/Kit^W-v; Tg(Mt1-RET)304Ina/0
• Genetic Background: involves: BALB/c * C57BL/6

neoplasm

increased melanoma incidence ( J:88074 )

• 8 of 44 mutants develop slowly growing melanocytic tumors and two of these mutants die of melanoma at a late stage

decreased tumor incidence ( J:88074 )

• mutants exhibit suppression of melanoma development compared to single Tg(Mt1-RET)304Ina/0 mice, with only 13.7% of mice developing benign melanocytic tumors and none die by 12 months of age

• mutants are tumor free for up to 13.8 months compared to 3.7 months in single Tg(Mt1-RET)304Ina/0 mice

mortality/aging

premature death ( J:88074 )

• average lifespan of mutants is 15.8 +/- 5.9 months which is not significantly shorter than the mean life span of Kit^W-v homozygotes, but is shorter than wild-type controls

pigmentation

mosaic coat color ( J:88074 )

• mutants have a mosaic of white and black hairs/skin

abnormal melanogenesis ( J:88074 )

• mutants exhibit excess melanogenesis in and around hair bulbs in the area of black hairs/skin

integument

mosaic coat color ( J:88074 )

• mutants have a mosaic of white and black hairs/skin

Genotype
MGI:5297719

cx35

• Allelic Composition: Kit^W-v/Kit⁺; Tg(Mt1-RET)304Ina/0
• Genetic Background: involves: BALB/c * C57BL/6

mortality/aging

decreased tumor-free survival time ( J:88074 )

• average lifespan of mutants with tumors is 13.2 +/- 4.8 months

• 9.8% and 40.9% of mutants die of growing melanoma within 12 and 18 months of birth, respectively

neoplasm

increased melanoma incidence ( J:88074 )

• 68.9% of mutants develop melanocytic tumors

• mutants are on average tumor free until 11.9 months of age

decreased tumor incidence ( J:88074 )

• mutants exhibit suppression of melanoma development compared to single Tg(Mt1-RET)304Ina/0 mice, showing reduced tumor growth and prolonged survival

• 31.1% of mutants do not develop tumors throughout their lifetime

Genotype
MGI:6260000

cx36

• Allelic Composition: Kit^W-v/Kit⁺; Rps19^Mhdadsk3/Rps19⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

pigmentation

belly spot ( J:139244 )

• adult mice show a larger white belly spot than mice that are only heterozygous for the Kit^W-v allele

integument

belly spot ( J:139244 )

• adult mice show a larger white belly spot than mice that are only heterozygous for the Kit^W-v allele

Genotype
MGI:4431077

cx37

• Allelic Composition: Kit^W-v/Kit⁺; Ph/Ph⁺
• Genetic Background: involves: C57BL

pigmentation

abnormal coat/hair pigmentation ( J:125080 )

• coat color is white except for some lightly diluted fur on the snout and sides of the head

irregular coat pigmentation ( J:125080 )

integument

abnormal coat/hair pigmentation ( J:125080 )

• coat color is white except for some lightly diluted fur on the snout and sides of the head

irregular coat pigmentation ( J:125080 )

Genotype
MGI:3619905

cx38

• Allelic Composition: Fbn1^Tsk/Fbn1⁺; Kit^W/Kit^W-v
• Genetic Background: involves: C57BL/6 * C57BL/10 * DBA/2 * WB/ReJ

hematopoietic system

anemia ( J:24076 )

absent mast cells ( J:24076 )

• absence of interscapular skin mast cells

respiratory system

overexpanded pulmonary alveolus ( J:24076 )

• enlargement of airspaces

immune system

absent mast cells ( J:24076 )

• absence of interscapular skin mast cells

pigmentation

absent coat pigmentation ( J:24076 )

• white coat and black eyes

integument

absent coat pigmentation ( J:24076 )

• white coat and black eyes

abnormal hypodermis morphology ( J:24076 )

• increase in subcutaneous connective tissue, with an accumulation beneath the panniculus carnosus muscle

tight skin ( J:24076 )

• tight skin develops around 7 days of age

skin fibrosis ( J:24076 )

• develop skin fibrosis, indicating that fibrosis is mast cell independent, however the degree of fibrosis development at older ages (5-7 months) is less than in single heterozygous Fbn1 mutant mice, which contain elevated levels of mast cells, indicating that mast cells contribute to fibrosis later in life