Phenotypes associated with this allele

• Allele Symbol: Kansl1^em1.1Cya
• Allele Name: endonuclease-mediated mutation 1.1, Cyagen Biosciences
• Allele ID: MGI:7751439
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kansl1^em1.1Cya/Kansl1^em1.1Cya	B6(FVB)-Kansl1^em1.1Cya	MGI:7763624
ht2	Kansl1^em1.1Cya/Kansl1^+	B6(FVB)-Kansl1^em1.1Cya	MGI:7763625
cx3	Igs2^tm1(CAG-mt-Keima)Fink/Igs2^+ Kansl1^em1.1Cya/Kansl1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:7763626

Genotype
MGI:7763624

hm1

• Allelic Composition: Kansl1^em1.1Cya/Kansl1^em1.1Cya
• Genetic Background: B6(FVB)-Kansl1^em1.1Cya

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

mortality/aging

prenatal lethality, complete penetrance ( J:327464 )

• no viable mice are obtained

homeostasis/metabolism

abnormal autophagy ( J:327464 )

• murine embryonic fibroblasts (MEFs) exhibit autophagic defects

cellular

abnormal autophagy ( J:327464 )

• murine embryonic fibroblasts (MEFs) exhibit autophagic defects

Genotype
MGI:7763625

ht2

• Allelic Composition: Kansl1^em1.1Cya/Kansl1⁺
• Genetic Background: B6(FVB)-Kansl1^em1.1Cya

behavior/neurological

impaired long-term object recognition memory ( J:327464 )

• mice show a memory impairment during the object recognition task

• the impairment of memory is significantly restored by 13-cis retinoic acid administration in novel object recognition tests

impaired spatial learning ( J:327464 )

• in the Morris water maze, although mice swim as fast as wild-type mice, their escape time is longer after 4 days of training, indicating impaired spatial learning

• 13-cis retinoic acid treatment shortens the escape latencies in Morris water maze tasks

cardiovascular system

decreased cardiac muscle contractility ( J:327464 )

• mice exhibit decreased ejection fraction and fractional shortening indicating impaired cardiac function

abnormal heart echocardiography feature ( J:327464 )

• echocardiogram shows decreased ejection fraction and fractional shortening

cellular

abnormal autophagy ( J:327464 )

• murine embryonic fibroblasts (MEFs) exhibit autophagic defects

• an excess of autophagosomes is seen in the hippocampus and heart tissues, indicating disruption of autophagic flux in the hippocampus and heart

oxidative stress ( J:327464 )

• reactive oxygen species (ROS) levels are increased in hippocampus and heart

homeostasis/metabolism

abnormal autophagy ( J:327464 )

• murine embryonic fibroblasts (MEFs) exhibit autophagic defects

• an excess of autophagosomes is seen in the hippocampus and heart tissues, indicating disruption of autophagic flux in the hippocampus and heart

muscle

decreased cardiac muscle contractility ( J:327464 )

• mice exhibit decreased ejection fraction and fractional shortening indicating impaired cardiac function

nervous system

decreased dendritic spine density ( J:327464 )

• the hippocampus CA1 region shows a reduction in spine density

• the reduction in spine density is rescued by treatment with 13-cis retinoic acid for 1 month

• however, no neuronal loss is seen in the hippocampus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Koolen de Vries syndrome		DOID:0050880	OMIM:610443	J:327464

Genotype
MGI:7763626

cx3

• Allelic Composition: Igs2^{tm1(CAG-mt-Keima)Fink}/Igs2⁺; Kansl1^em1.1Cya/Kansl1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

cellular

abnormal mitophagy ( J:327464 )

• basal mitophagic levels of hippocampus and heart are reduced

homeostasis/metabolism

abnormal mitophagy ( J:327464 )

• basal mitophagic levels of hippocampus and heart are reduced