Phenotypes associated with this allele

• Allele Symbol: Kmt2d⁺
• Allele Name: wild type
• Allele ID: MGI:3049003
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Kmt2d^tm1.2(IMPC)Wtsi/Kmt2d^+	C57BL/6N-Kmt2d^tm1.2(IMPC)Wtsi/Wtsi	MGI:8176222
ht2	Kmt2d^Gt(RRT024)Byg/Kmt2d^+	involves: 129P2/OlaHsd	MGI:6515623
ht3	Kmt2d^Gt(RRT024)Byg/Kmt2d^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:5829566
cn4	Kmt2d^tm1.1Kaig/Kmt2d^+ Tmem163^Tg(ACTB-cre)2Mrt/0	B6.Cg-Kmt2d^tm1.1Kaig Tg(ACTB-cre)2Mrt	MGI:5780092
cn5	Kmt2d^tm1.1Kaig/Kmt2d^+ Cd19^tm1(cre)Cgn/Cd19^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5780069
cn6	Kmt2d^tm1.1Kaig/Kmt2d^+ Ighg1^tm1(cre)Cgn/Ighg1^+ Tg(Vav-BCL2)69Jad/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5780072
cn7	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kmt2d^tm2.1Kaig/Kmt2d^+	involves: C57BL/6J * CBA/J	MGI:7333170
cx8	Kmt2c^tm1.1Jwle/Kmt2c^+ Kmt2d^Gt(RRT024)Byg/Kmt2d^+	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:6515624

Genotype
MGI:8176222

ht1

• Allelic Composition: Kmt2d^{tm1.2(IMPC)Wtsi}/Kmt2d⁺
• Genetic Background: C57BL/6N-Kmt2d^{tm1.2(IMPC)Wtsi}/Wtsi

Data Sources

IMPC Data for Kmt2d

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

growth/size/body

decreased body length ( J:211773 )

♀

IMPC - WTSI

hematopoietic system

decreased erythrocyte cell number ( J:211773 )

IMPC - WTSI

increased mean corpuscular hemoglobin ( J:211773 )

♀

IMPC - WTSI

decreased leukocyte cell number ( J:211773 )

♂

IMPC - WTSI

homeostasis/metabolism

decreased circulating sodium level ( J:211773 )

IMPC - WTSI

increased circulating alkaline phosphatase level ( J:211773 )

♀

IMPC - WTSI

increased circulating amylase level ( J:211773 )

♀

IMPC - WTSI

decreased circulating chloride level ( J:211773 )

♀

IMPC - WTSI

immune system

decreased leukocyte cell number ( J:211773 )

♂

IMPC - WTSI

Genotype
MGI:6515623

ht2

• Allelic Composition: Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺
• Genetic Background: involves: 129P2/OlaHsd

growth/size/body

decreased body fat mass ( J:301497 )

• mice exhibit low levels of body fat mass

decreased susceptibility to diet-induced obesity ( J:301497 )

• mice exhibit resistance to high-fat diet-induced obesity

decreased body size ( J:301083 )

• dwarfism

decreased body weight ( J:301083 , J:301497 )

• mice are lighter after 11 weeks of age (J:301497)

decreased body length ( J:301083 )

• reduction in linear length

nervous system

decreased neuron number ( J:301083 )

• marker analysis shows a reduction in growth hormone-releasing hormone (GHRH) producing neurons

• however, proopiemlanocortin (POMC)-neuron numbers are normal and agouti-related peptide (agRP)-neurons are mildly increased

adipose tissue

decreased body fat mass ( J:301497 )

• mice exhibit low levels of body fat mass

homeostasis/metabolism

decreased susceptibility to diet-induced obesity ( J:301497 )

• mice exhibit resistance to high-fat diet-induced obesity

improved glucose tolerance ( J:301497 )

increased insulin sensitivity ( J:301497 )

increased bile salt level ( J:301497 )

• mice exhibit increased serum and feces bile acid levels

• both serum and hepatic bile acid levels are increased during daytime, resulting in a loss of rhythmic fluctuation of bile acid levels over the circadian cycle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:301083

Genotype
MGI:5829566

ht3

• Allelic Composition: Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

behavior/neurological

impaired contextual conditioning behavior ( J:225779 )

• mice show deficits in contextual fear conditioning

abnormal object recognition memory ( J:225779 )

• mice show deficits in novel object recognition

impaired spatial learning ( J:225779 )

• mice show deficits in the Morris water maze probe trial

• however, mice do not show decreased activity, reduced grip strength, or slower swim speeds or differences in the escape latency during the training phase of the Morris water maze

• mice treated with the histone deacetylase inhibitor (HDACi) AR-42 beginning at 20 weeks of age and continuing for 2 weeks show improvement of hippocampal memory defects

craniofacial

short maxilla ( J:225779 )

flattened snout ( J:225779 )

• flattened snout

growth/size/body

flattened snout ( J:225779 )

• flattened snout

decreased body weight ( J:225779 )

• decrease in body weight, however no decrease in brain weight is seen

hearing/vestibular/ear

abnormal inner ear canal morphology ( J:225779 )

• downward rotation of the ear canal

nervous system

abnormal dentate gyrus morphology ( J:225779 )

• reduction in dentate gyrus granule cell layer

abnormal hippocampus granule cell layer ( J:225779 )

• reduction in dentate gyrus granule cell layer

• reduction in neurogenesis in the granule cell layer as evidenced by reduced expression of doublecortin and EdU staining

• decrease in dendritic branching complexity of doublecortin-positive cells in the granule cell layer

skeleton

short maxilla ( J:225779 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:225779

Genotype
MGI:5780092

cn4

• Allelic Composition: Kmt2d^tm1.1Kaig/Kmt2d⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/0
• Genetic Background: B6.Cg-Kmt2d^tm1.1Kaig Tg(ACTB-cre)2Mrt

cardiovascular system

cardiovascular system phenotype ( J:229890 )

N • mice exhibit normal cardiac morphology and fractional shortening

abnormal heart echocardiography feature ( J:229890 )

• narrowing diameter of the ascending aorta

• increased aortic valve peak velocity

Genotype
MGI:5780069

cn5

• Allelic Composition: Kmt2d^tm1.1Kaig/Kmt2d⁺; Cd19^tm1(cre)Cgn/Cd19⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

increased germinal center B cell number ( J:228913 )

♀ • intermediate at 3 and 6 months in mice immunized with sheep red blood cell

increased spleen germinal center size ( J:228913 )

♀ • intermediate at 3 and 6 months in mice immunized with sheep red blood cell

hematopoietic system

increased germinal center B cell number ( J:228913 )

♀ • intermediate at 3 and 6 months in mice immunized with sheep red blood cell

increased spleen germinal center size ( J:228913 )

♀ • intermediate at 3 and 6 months in mice immunized with sheep red blood cell

Genotype
MGI:5780072

cn6

• Allelic Composition: Kmt2d^tm1.1Kaig/Kmt2d⁺; Ighg1^tm1(cre)Cgn/Ighg1⁺; Tg(Vav-BCL2)69Jad/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

mortality/aging

premature death ( J:228913 )

♀ • mice die around 13 months of age as in Tg(Vav-BCL2)1Jad mice

neoplasm

increased B cell derived lymphoma incidence ( J:228913 )

♀ • diffuse large B cell lymphoma as in Tg(Vav-BCL2)1Jad mice

increased follicular lymphoma incidence ( J:228913 )

♀ • more so than in Tg(Vav-BCL2)1Jad mice

Genotype
MGI:7333170

cn7

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kmt2d^tm2.1Kaig/Kmt2d⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

hearing/vestibular/ear

abnormal ear shape ( J:294895 )

• rounded ears

growth/size/body

short nasal bone ( J:294895 )

• less severe than in homozygous mice

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

postnatal growth retardation ( J:294895 )

skeleton

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

respiratory system

short nasal bone ( J:294895 )

• less severe than in homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:294895

Genotype
MGI:6515624

cx8

• Allelic Composition: Kmt2c^tm1.1Jwle/Kmt2c⁺; Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ

growth/size/body

decreased body fat mass ( J:301497 )

• mice exhibit decreased body fat mass percentage at 15 weeks of age

decreased body weight ( J:301497 )

• mice exhibit decreased body weight at 7 weeks of age

adipose tissue

decreased body fat mass ( J:301497 )

• mice exhibit decreased body fat mass percentage at 15 weeks of age

homeostasis/metabolism

improved glucose tolerance ( J:301497 )

increased insulin sensitivity ( J:301497 )

increased bile salt level ( J:301497 )

• mice exhibit increased serum bile acid levels