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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc6a4tm1Kpl
targeted mutation 1, Klaus-Peter Lesch
MGI:2178613
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc6a4tm1Kpl/Slc6a4tm1Kpl B6.129-Slc6a4tm1Kpl MGI:3640114
hm2
Slc6a4tm1Kpl/Slc6a4tm1Kpl involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3710369
hm3
Slc6a4tm1Kpl/Slc6a4tm1Kpl involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2672787
hm4
Slc6a4tm1Kpl/Slc6a4tm1Kpl involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3582958
ht5
Slc6a4tm1Kpl/Slc6a4+ B6.129-Slc6a4tm1Kpl MGI:5467728
ht6
Slc6a4tm1Kpl/Slc6a4+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3056092
ht7
Slc6a4tm1Kpl/Slc6a4+ involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3056080
cx8
Ptentm1Rps/Pten+
Slc6a4tm1Kpl/Slc6a4+
B6.129-Slc6a4tm1Kpl Ptentm1Rps MGI:5467729
cx9
Slc6a3tm1Mca/Slc6a3tm1Mca
Slc6a4tm1Kpl/Slc6a4tm1Kpl
involves: 129P2/OlaHsd * C57BL/6J MGI:3056096
cx10
Slc6a3tm1Mca/Slc6a3tm1Mca
Slc6a4tm1Kpl/Slc6a4+
involves: 129P2/OlaHsd * C57BL/6J MGI:3056097
cx11
Htr1btm1Rhn/Htr1btm1Rhn
Slc6a4tm1Kpl/Slc6a4tm1Kpl
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3710370


Genotype
MGI:3640114
hm1
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
B6.129-Slc6a4tm1Kpl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• traveled a significantly shorter distance in the open field
• spent significantly less time in the center of the open field
• showed exaggerated immobility in response to repeated, but not acute, exposure to the tail suspension test
• buried significantly fewer marbles than control
• 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
OMIM ID Ref(s)
Autism 209850 J:192363




Genotype
MGI:3710369
hm2
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• whole blood 5-HT levels are reduced

cardiovascular system
• 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
• leaflet thickening in valvular regions
• develop cardiac fibrosis, with significantly more collagen in myocardial and valvular regions
• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)
• decreased fractional shortening

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




Genotype
MGI:2672787
hm3
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• cocaine-conditioned place preference is significantly enhanced compared to wild-type mice
• no thermal hyperalgesia is seen after unilateral chronic constrictive sciatic nerve injury unlike in wild-type mice
• increased REM sleep bouts, more bouts of short duration, and less wake time are seen in mutants compared to wild-type mice

cardiovascular system
• hypoxia-induced thickening of the distal pulmonary vessels is reduced in mutants compared to wild-type mice
• 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
• right ventricular hypertrophy is less severe after prolonged hypoxia (2-5 weeks) compared to wild-type mice
• 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
• the number of apoptotic cells in the brain is significantly decreased in neonatal mutants

homeostasis/metabolism
• whole blood serotonin levels are also significantly decreased

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




Genotype
MGI:3582958
hm4
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• no hypothermia in response to 8-hydroxy-2-(di-n-propylamino)tetraline treatment is seen unlike in wild-type mice
• a 60-80% decrease in serotonin levels in the brain stem, frontal cortex, hippocampus, and striatum is seen

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




Genotype
MGI:5467728
ht5
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4+
Genetic
Background
B6.129-Slc6a4tm1Kpl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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

growth/size/body




Genotype
MGI:3056092
ht6
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the barrel septa in layer IV of the somatosensory cortex are enlarged

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




Genotype
MGI:3056080
ht7
Allelic
Composition
Slc6a4tm1Kpl/Slc6a4+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• cumulative (+)3,4-methylenedioxymethamphetamine (MDMA) induced hyperactivity is reduced by about 50% compared to wild-type




Genotype
MGI:5467729
cx8
Allelic
Composition
Ptentm1Rps/Pten+
Slc6a4tm1Kpl/Slc6a4+
Genetic
Background
B6.129-Slc6a4tm1Kpl Ptentm1Rps
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Rps mutation (1 available); any Pten mutation (41 available)
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• 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 males

nervous system
• deficits in prepulse inhibition of the acoustic startle response indicate impaired sensorimotor gating
• 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
• macrocephaly that is more severe than in either single heterozygote

Mouse Models of Human Disease
OMIM ID Ref(s)
Autism 209850 J:144937




Genotype
MGI:3056096
cx9
Allelic
Composition
Slc6a3tm1Mca/Slc6a3tm1Mca
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a3tm1Mca mutation (0 available); any Slc6a3 mutation (38 available)
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• double homozygotes do not display any cocaine place preference
• movement in a novel environment is increased compared to wild-type and Slc6a3tm1Mca homozygotes

endocrine/exocrine glands
• abnormal central anterior pituitaries with fewer acidophilic cells are seen similar to Slc6a3tm1Mca homozygotes
• small pituitary glands are seen similar to Slc6a3tm1Mca homozygotes

growth/size/body
• double homozygotes grow slower than wild-type but not as slowly as Slc6a3tm1Mca homozygotes

nervous system
• abnormal central anterior pituitaries with fewer acidophilic cells are seen similar to Slc6a3tm1Mca homozygotes
• small pituitary glands are seen similar to Slc6a3tm1Mca homozygotes




Genotype
MGI:3056097
cx10
Allelic
Composition
Slc6a3tm1Mca/Slc6a3tm1Mca
Slc6a4tm1Kpl/Slc6a4+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a3tm1Mca mutation (0 available); any Slc6a3 mutation (38 available)
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants do not display any cocaine place preference




Genotype
MGI:3710370
cx11
Allelic
Composition
Htr1btm1Rhn/Htr1btm1Rhn
Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htr1btm1Rhn mutation (2 available); any Htr1b mutation (15 available)
Slc6a4tm1Kpl mutation (3 available); any Slc6a4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• valvular fibrosis
• leaflet thickening in valvular regions
• fibrosis in myocardial and valvular regions
• increased left ventricular lumen diameter and myocardial hypokinesis (decreased fractional shortening)
• decreased fractional shortening

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





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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory