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Phenotypes Associated with This Genotype
Genotype
MGI:7763625
Allelic
Composition
Kansl1em1.1Cya/Kansl1+
Genetic
Background
B6(FVB)-Kansl1em1.1Cya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kansl1em1.1Cya mutation (0 available); any Kansl1 mutation (146 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• 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
• mice exhibit decreased ejection fraction and fractional shortening indicating impaired cardiac function
• echocardiogram shows decreased ejection fraction and fractional shortening

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

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

nervous system
• 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


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
11/12/2024
MGI 6.24
The Jackson Laboratory