All Phenotypes Kansl1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kansl1⁺
wild type
MGI:5317910

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Kansl1^em1.1Cya/Kansl1⁺	B6(FVB)-Kansl1^em1.1Cya	MGI:7763625
ht2	Kansl1^{tm1b(EUCOMM)Hmgu}/Kansl1⁺	involves: C57BL/6N	MGI:8166401
cn3	Kansl1^em1Cya/Kansl1⁺ Tg(CAG-cre/Esr1*)5Amc/0	Not Specified	MGI:7763622
cn4	Kansl1^em1Cya/Kansl1⁺ Tg(CAG-cre/Esr1*)5Amc/0 Igs2^{tm1(CAG-mt-Keima)Fink}/Igs2⁺	Not Specified	MGI:7763629
cx5	Igs2^{tm1(CAG-mt-Keima)Fink}/Igs2⁺ Kansl1^em1.1Cya/Kansl1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:7763626

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kansl1^em1.1Cya mutation (0 available); any Kansl1 mutation (143 available)

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

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 )

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

• murine embryonic fibroblasts (MEFs) exhibit autophagic defects

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

Allelic Composition	Kansl1^{tm1b(EUCOMM)Hmgu}/Kansl1⁺
Genetic Background	involves: C57BL/6N
Cell Lines	HEPD0766_8_G02

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kansl1^{tm1b(EUCOMM)Hmgu} mutation (0 available); any Kansl1 mutation (143 available)

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

adipose tissue

decreased total body fat amount ( J:244312 )

• lower adiposity level at 20 weeks of age

behavior/neurological

behavior/neurological phenotype ( J:244312 )

N	• no differences are seen in the three-chamber sociability test and in the social interaction test

impaired contextual conditioning behavior ( J:244312 )

• in the fear conditioning test, no differences in baseline or post-shock freezing levels are seen in the conditioning session but mice show lower incidence of freezing in the context session

impaired cued conditioning behavior ( J:244312 )

• in the cue session of the fear conditioning test, mice show decreased freezing level during the second 2-minute cue period

abnormal motor learning ( J:244312 )

• during the learning phase of the rotarod test, mice show higher levels of motor coordination and learning

impaired long-term object recognition memory ( J:244312 )

• in the novel object recognition task with a retention delay of 3 hours, no difference is seen in the acquisition session but mice show a memory impairment during the choice session

enhanced coordination ( J:244312 )

• during the learning phase of the rotarod test, mice show higher levels of motor coordination and learning

• during the test phase of the rotarod test, mice show improvements for speed higher than 10 rpm

abnormal locomotor circadian rhythm ( J:244312 )

• baseline locomotor activity is reduced during the dark phase and the light phase of the circadian activity test

• however, mice exhibit normal patterns of activity in the open field

increased vertical activity ( J:244312 )

• in the novel open field arena, mice show increased rearing behavior

• in odorless home-cages, mice show more intensive rearing behavior

decreased stereotypic behavior ( J:244312 )

• mice show decreased digging behavior in odorless home-cages

growth/size/body

decreased body size ( J:244312 )

• at 20 weeks of age

decreased body weight ( J:244312 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Koolen de Vries syndrome		DOID:0050880	OMIM:610443	J:244312

Allelic Composition	Kansl1^em1Cya/Kansl1⁺ Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kansl1^em1Cya mutation (0 available); any Kansl1 mutation (143 available)
Tg(CAG-cre/Esr1*)5Amc mutation (11 available)

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

cellular

abnormal autophagy ( J:327464 )

• tamoxifen-treated murine embryonic fibroblasts (MEFs) exhibit autophagic defects

homeostasis/metabolism

abnormal autophagy ( J:327464 )

• tamoxifen-treated murine embryonic fibroblasts (MEFs) exhibit autophagic defects

Allelic Composition	Kansl1^em1Cya/Kansl1⁺ Tg(CAG-cre/Esr1*)5Amc/0 Igs2^{tm1(CAG-mt-Keima)Fink}/Igs2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igs2^{tm1(CAG-mt-Keima)Fink} mutation (0 available); any Igs2 mutation (72 available)
Kansl1^em1Cya mutation (0 available); any Kansl1 mutation (143 available)
Tg(CAG-cre/Esr1*)5Amc mutation (11 available)

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

cellular

abnormal mitophagy ( J:327464 )

• hippocampal neurons treated with tamoxifen exhibit low mitophagic activity at 7 days in vitro

• infection of lentiviral Stx17 into tamoxifen-treated neurons leads to partial restoration of mitophagic activity

homeostasis/metabolism

abnormal mitophagy ( J:327464 )

• infection of lentiviral Stx17 into tamoxifen-treated neurons leads to partial restoration of mitophagic activity

• hippocampal neurons treated with tamoxifen exhibit low mitophagic activity at 7 days in vitro

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igs2^{tm1(CAG-mt-Keima)Fink} mutation (0 available); any Igs2 mutation (72 available)
Kansl1^em1.1Cya mutation (0 available); any Kansl1 mutation (143 available)

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

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

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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