All Phenotypes Kmt2d<Gt(RRT024)Byg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kmt2d^{Gt(RRT024)Byg}
gene trap RRT024, BayGenomics
MGI:4332076

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kmt2d^{Gt(RRT024)Byg}/Kmt2d^{Gt(RRT024)Byg}	involves: 129P2/OlaHsd	MGI:6515622
hm2	Kmt2d^{Gt(RRT024)Byg}/Kmt2d^{Gt(RRT024)Byg}	involves: 129P2/OlaHsd * C57BL/6J	MGI:5829565
ht3	Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺	involves: 129P2/OlaHsd	MGI:6515623
ht4	Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺	involves: 129P2/OlaHsd * C57BL/6J	MGI:5829566
cx5	Kmt2c^tm1.1Jwle/Kmt2c⁺ Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:6515624

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2d^{Gt(RRT024)Byg} mutation (1 available); any Kmt2d mutation (167 available)

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

mortality/aging

embryonic lethality prior to organogenesis ( J:301497 )

• embryos die before E9.5

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2d^{Gt(RRT024)Byg} mutation (1 available); any Kmt2d mutation (167 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:225779 )

• embryonic lethality by E12

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2d^{Gt(RRT024)Byg} mutation (1 available); any Kmt2d mutation (167 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2d^{Gt(RRT024)Byg} mutation (1 available); any Kmt2d mutation (167 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2c^tm1.1Jwle mutation (0 available); any Kmt2c mutation (179 available)
Kmt2d^{Gt(RRT024)Byg} mutation (1 available); any Kmt2d mutation (167 available)

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

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

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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