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Phenotypes Associated with This Genotype
Genotype
MGI:5829566
Allelic
Composition
Kmt2dGt(RRT024)Byg/Kmt2d+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2dGt(RRT024)Byg mutation (1 available); any Kmt2d mutation (110 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show deficits in contextual fear conditioning
• mice show deficits in novel object recognition
• 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
• flattened snout

growth/size/body
• flattened snout
• decrease in body weight, however no decrease in brain weight is seen

hearing/vestibular/ear
• downward rotation of the ear canal

nervous system
• reduction in dentate gyrus granule cell layer
• 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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory