Phenotypes associated with this allele

• Allele Symbol: Kmt2d^tm2.1Kaig
• Allele Name: targeted mutation 2.1, Kai Ge
• Allele ID: MGI:7333014
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig Tg(Sox10-cre)1Wdr/0	involves: C57BL/6 * C57BL/6J * CBA	MGI:7333175
cn2	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kmt2d^tm2.1Kaig/Kmt2d^+	involves: C57BL/6J * CBA/J	MGI:7333170
cn3	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig	involves: C57BL/6J * CBA/J	MGI:7333171

Genotype
MGI:7333175

cn1

• Allelic Composition: Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig; Tg(Sox10-cre)1Wdr/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

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

craniofacial

abnormal basicranium morphology ( J:294895 )

• cranial base phenotypes are identical to homozygous mice with recombination induced by the H2az2^{Tg(Wnt1-cre)11Rth} allele except in some cases pups do have a small strip of presphenoid bone formation

short frontal bone ( J:294895 )

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

face hypoplasia ( J:294895 )

• frontonasal hypoplasia

skeleton

abnormal basicranium morphology ( J:294895 )

• cranial base phenotypes are identical to homozygous mice with recombination induced by the H2az2^{Tg(Wnt1-cre)11Rth} allele except in some cases pups do have a small strip of presphenoid bone formation

short frontal bone ( J:294895 )

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

growth/size/body

short nasal bone ( J:294895 )

face hypoplasia ( J:294895 )

• frontonasal hypoplasia

respiratory system

short nasal bone ( J:294895 )

Genotype
MGI:7333170

cn2

• 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:7333171

cn3

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

mortality/aging

neonatal lethality, complete penetrance ( J:294895 )

• die at birth

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

craniofacial

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

skeleton

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal osteoblast morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the osteoblast and pre-osteoblast domains are positioned more laterally compared to controls

abnormal chondrocyte morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the medial chondrocyte domain extends laterally

abnormal endochondral bone ossification ( J:294895 )

• absence of neural crest cell based endochondral ossification in the hyoid bone

• absence of presphenoid bone ossification at birth

• impaired ossification in the cranial base

growth/size/body

short nasal bone ( J:294895 )

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

digestive/alimentary system

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

respiratory system

short nasal bone ( J:294895 )