All Phenotypes Slc6a4<tm1Kpl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Slc6a4^tm1Kpl
targeted mutation 1, Klaus-Peter Lesch
MGI:2178613

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	B6.129-Slc6a4^tm1Kpl	MGI:3640114
hm2	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3710369
hm3	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2672787
hm4	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3582958
ht5	Slc6a4^tm1Kpl/Slc6a4⁺	B6.129-Slc6a4^tm1Kpl	MGI:5467728
ht6	Slc6a4^tm1Kpl/Slc6a4⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3056092
ht7	Slc6a4^tm1Kpl/Slc6a4⁺	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3056080
cx8	Pten^tm1Rps/Pten⁺ Slc6a4^tm1Kpl/Slc6a4⁺	B6.129-Slc6a4^tm1Kpl Pten^tm1Rps	MGI:5467729
cx9	Slc6a3^tm1Mca/Slc6a3^tm1Mca Slc6a4^tm1Kpl/Slc6a4⁺	involves: 129P2/OlaHsd * C57BL/6J	MGI:3056097
cx10	Slc6a3^tm1Mca/Slc6a3^tm1Mca Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	involves: 129P2/OlaHsd * C57BL/6J	MGI:3056096
cx11	Htr1b^tm1Rhn/Htr1b^tm1Rhn Slc6a4^tm1Kpl/Slc6a4^tm1Kpl	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3710370

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	B6.129-Slc6a4^tm1Kpl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

decreased exploration in new environment ( J:108880 )

• traveled a significantly shorter distance in the open field

• spent significantly less time in the center of the open field

behavioral despair ( J:108880 )

• showed exaggerated immobility in response to repeated, but not acute, exposure to the tail suspension test

abnormal response to novel object ( J:108880 )

• buried significantly fewer marbles than control

social withdrawal ( J:151144 )

• male mutant mice spend more time in an empty cage than in a cage with a strange mouse in the sociability choice test; female mutant mice did not behave differently than controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:192363

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

digestive/alimentary system

abnormal small intestine crypts of Lieberkuhn morphology ( J:237081 )

• small intestinal crypt depth is larger

abnormal small intestinal villus morphology ( J:237081 )

• small intestinal villus height is larger

abnormal digestive system physiology ( J:237081 )

• macromolecular permeability of the mucosa is increased compared to wild-type mice

abnormal gastrointestinal motility ( J:237081 )

• colorectal motility is slower

• however, total GI transit time and gastric emptying are not different from wild-type

• GI transit and gastric emptying after chemical sympathectomy with 6-hydroxydopamine (6-OHDA) are not different from wild-type

• however, sympathectomy normalizes propulsive colorectal motility

abnormal intestinal peristalsis ( J:237081 )

• colonic migrating motor complexes (i.e. peristaltic reflexes) frequency and velocity in isolated colon preparations are not slower than in wild-type mice although the propagation length of colonic migrating motor complexes is shorter

abnormal small intestinal transit time ( J:237081 )

• small intestinal transit is slower

• sympathectomy normalizes small intestinal transit

homeostasis/metabolism

decreased serotonin level ( J:121505 )

• whole blood 5-HT levels are reduced

cardiovascular system

abnormal heart valve morphology ( J:121505 )

• in valvular regions, show leaflet thickening and marked collagen accumulation at the attachment site and in the leaflet itself

• these lesions are homogeneously distributed in the mitral, tricuspid, aortic, and pulmonary valves

• several areas of chondroid metaplasia are seen within the valvular tissue

heart valve hyperplasia ( J:121505 )

• leaflet thickening in valvular regions

cardiac fibrosis ( J:121505 )

• develop cardiac fibrosis, with significantly more collagen in myocardial and valvular regions

dilated cardiomyopathy ( J:121505 )

• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)

decreased cardiac muscle contractility ( J:121505 )

• decreased fractional shortening

endocrine/exocrine glands

abnormal small intestine crypts of Lieberkuhn morphology ( J:237081 )

• small intestinal crypt depth is larger

muscle

dilated cardiomyopathy ( J:121505 )

• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)

decreased cardiac muscle contractility ( J:121505 )

• decreased fractional shortening

abnormal intestinal peristalsis ( J:237081 )

nervous system

abnormal enteric nervous system morphology ( J:237081 )

• mice exhibit a hyperplastic enteric nervous system with selective enhancement of development/survival of late-born neurons

• however, no ectopic neurons are seen in the mucosa or smooth muscle coats of the bowel

abnormal enteric neuron morphology ( J:237081 )

• total enteric neurons are more abundant in both the submucosal and the myenteric plexus of the small intestines

• sub-mucosal TH-expressing and CGRP-expressing neurons are overly abundant in the submucosal plexus as a proportion of total neurons

• GABA-expressing neurons are overly abundant

abnormal neurite morphology ( J:237081 )

• serotonergic neurites branch out more extensively in the gut than in wild-type mice

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

enhanced conditioned place preference behavior ( J:48275 )

• cocaine-conditioned place preference is significantly enhanced compared to wild-type mice

abnormal sleep pattern ( J:89835 )

• increased REM sleep bouts, more bouts of short duration, and less wake time are seen in mutants compared to wild-type mice

abnormal thermal nociception ( J:81734 )

• no thermal hyperalgesia is seen after unilateral chronic constrictive sciatic nerve injury unlike in wild-type mice

muscle

heart right ventricle hypertrophy ( J:62768 )

• right ventricular hypertrophy is less severe after prolonged hypoxia (2-5 weeks) compared to wild-type mice

cardiovascular system

abnormal pulmonary artery morphology ( J:62768 )

• hypoxia-induced thickening of the distal pulmonary vessels is reduced in mutants compared to wild-type mice

abnormal heart ventricle morphology ( J:62768 )

• left ventricular weight/body weight is lower in mutants

• after 5 weeks under hypoxic conditions right ventricular/left ventricular + septum weight is not increased in mutants unlike in wild-type mice

heart right ventricle hypertrophy ( J:62768 )

• right ventricular hypertrophy is less severe after prolonged hypoxia (2-5 weeks) compared to wild-type mice

increased right ventricle systolic pressure ( J:62768 )

• a greater increase in right ventricular systolic pressure is seen after 5 minutes under hypoxic conditions less than 8% O₂) in mutants compared to wild-type mice

• however prolonged hypoxia (2-5 weeks) produces a smaller increase in right ventricular systolic pressure compared to wild-type

nervous system

abnormal brain morphology ( J:89816 )

• the number of apoptotic cells in the brain is significantly decreased in neonatal mutants

homeostasis/metabolism

decreased serotonin level ( J:62768 )

• whole blood serotonin levels are significantly decreased

growth/size/body

heart right ventricle hypertrophy ( J:62768 )

• right ventricular hypertrophy is less severe after prolonged hypoxia (2-5 weeks) compared to wild-type mice

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

homeostasis/metabolism

abnormal body temperature homeostasis ( J:59654 )

• no hypothermia in response to 8-hydroxy-2-(di-n-propylamino)tetraline treatment is seen unlike in wild-type mice

decreased serotonin level ( J:76020 )

• a 60-80% decrease in serotonin levels in the brain stem, frontal cortex, hippocampus, and striatum is seen

behavior/neurological

decreased locomotor activity ( J:76020 )

• (+)3,4-methylenedioxymethamphetamine (MDMA) does not induce hyperactivity but instead results in hypoactivity 10 and 30 minutes after treatment

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4⁺
Genetic Background	B6.129-Slc6a4^tm1Kpl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

abnormal social investigation ( J:144937 )

• 8 week old females show a trend towards decreased preference for interacting with a stimulus mouse in a social approach assay, however this does not reach significance

• while 8 week old males do not show a change in preference for social interaction for the first trial, upon reexposure to the same social target in trial 2, males do not show attenuation of preference for social investigation between the first and second trials as seen in wild-type mice, indicating impaired social recognition in male

nervous system

increased brain weight ( J:144937 )

growth/size/body

megacephaly ( J:144937 )

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

nervous system

abnormal barrel cortex morphology ( J:71182 )

• the barrel septa in layer IV of the somatosensory cortex are enlarged

behavior/neurological

enhanced conditioned place preference behavior ( J:48275 )

• cocaine-conditioned place preference is significantly enhanced compared to wild-type mice

Allelic Composition	Slc6a4^tm1Kpl/Slc6a4⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

hyperactivity ( J:76020 )

• cumulative (+)3,4-methylenedioxymethamphetamine (MDMA) induced hyperactivity is reduced by about 50% compared to wild-type

Allelic Composition	Pten^tm1Rps/Pten⁺ Slc6a4^tm1Kpl/Slc6a4⁺
Genetic Background	B6.129-Slc6a4^tm1Kpl Pten^tm1Rps

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pten^tm1Rps mutation (1 available); any Pten mutation (88 available)
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

abnormal social investigation ( J:144937 )

• 8 week old females show a significant decrease in preference for interacting with a stimulus mouse in a social approach assay, with mice spending significantly less time interacting with the stimulus mouse than in wild-type mice or either single heterozygote, indicating impaired social approach behavior in females

nervous system

increased brain weight ( J:144937 )

reduced sensorimotor gating ( J:144937 )

• deficits in prepulse inhibition of the acoustic startle response indicate impaired sensorimotor gating

decreased prepulse inhibition ( J:144937 )

• mice show deficits in prepulse inhibition of the acoustic startle response to a similar level as single Pten heterozygotes

• however, mice respond to the olfactory-habituation-dishabituation test normally, indicating normal olfactory function

growth/size/body

megacephaly ( J:144937 )

• macrocephaly that is more severe than in either single heterozygote

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:144937

Allelic Composition	Slc6a3^tm1Mca/Slc6a3^tm1Mca Slc6a4^tm1Kpl/Slc6a4⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a3^tm1Mca mutation (1 available); any Slc6a3 mutation (66 available)
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

behavior/neurological

impaired conditioned place preference behavior ( J:93114 )

• mutants do not display any cocaine place preference

Allelic Composition	Slc6a3^tm1Mca/Slc6a3^tm1Mca Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

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

behavior/neurological

impaired conditioned place preference behavior ( J:93114 )

• double homozygotes do not display any cocaine place preference

increased exploration in new environment ( J:93114 )

• movement in a novel environment is increased compared to wild-type and Slc6a3^tm1Mca homozygotes

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:93114 )

• abnormal central anterior pituitaries with fewer acidophilic cells are seen similar to Slc6a3^tm1Mca homozygotes

small pituitary gland ( J:93114 )

• small pituitary glands are seen similar to Slc6a3^tm1Mca homozygotes

growth/size/body

postnatal growth retardation ( J:93114 )

• double homozygotes grow slower than wild-type but not as slowly as Slc6a3^tm1Mca homozygotes

nervous system

abnormal adenohypophysis morphology ( J:93114 )

• abnormal central anterior pituitaries with fewer acidophilic cells are seen similar to Slc6a3^tm1Mca homozygotes

small pituitary gland ( J:93114 )

• small pituitary glands are seen similar to Slc6a3^tm1Mca homozygotes

Allelic Composition	Htr1b^tm1Rhn/Htr1b^tm1Rhn Slc6a4^tm1Kpl/Slc6a4^tm1Kpl
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htr1b^tm1Rhn mutation (3 available); any Htr1b mutation (26 available)
Slc6a4^tm1Kpl mutation (3 available); any Slc6a4 mutation (53 available)

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

cardiovascular system

abnormal heart valve morphology ( J:121505 )

• valvular fibrosis

heart valve hyperplasia ( J:121505 )

• leaflet thickening in valvular regions

cardiac fibrosis ( J:121505 )

• fibrosis in myocardial and valvular regions

dilated cardiomyopathy ( J:121505 )

• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)

decreased cardiac muscle contractility ( J:121505 )

• decreased fractional shortening

muscle

dilated cardiomyopathy ( J:121505 )

• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)

decreased cardiac muscle contractility ( J:121505 )

• decreased fractional shortening

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