Phenotypes Associated with This Genotype

Genotype
MGI:5829566

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

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

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