Mouse Genome Informatics
hm1
    Shank3tm1.2Bux/Shank3tm1.2Bux
129S6.B6(Cg)-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected homozygotes (16.22%) were produced from a heterozygote x heterozygote cross
• Background Sensitivity: homozygote lethality is background dependent, the greatest loss is observed on the 129S6 background, followed by FVB/N and C57BL/6

behavior/neurological
N
• Background Sensitivity: tail flick latency is observed in mice on the C57BL/6 background, but not on FVB/N or 129S6/SvEvTac backgrounds (J:206790)
• open arc entries are increased in elevated zero-maze as compared to littermate controls
• decreased freezing is observed following 3 tone-shock associations and after third association, however no significant differences are observed in contextual or cued conditioning tests
• mice exhibit decrease in mean forelimb grip strength as compared to littermate controls
• mice exhibit hyperactivity in first 10 minutes of open field test, but return to activity level similar to controls

growth/size/body
• mice exhibit lower body weight than controls


Mouse Genome Informatics
hm2
    Shank3tm1.2Bux/Shank3tm1.2Bux
B6N.Cg-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected homozygotes (21%) were produced from a heterozygote x heterozygote cross
• Background Sensitivity: homozygote lethality is background dependent, the greatest loss is observed on the 129S6 background, followed by FVB/N and C57BL/6

behavior/neurological
• mice are more active in elevated zero maze as determined by increases in total moving distance and total moving time
• open arc entries are increased in elevated zero-maze
• homozygous mice exhibit a preference for the unfamiliar mouse over the familiar mouse relative to littermate controls
• Background Sensitivity: mice exhibit a longer tail flick latency in the first trial of the tail-flick assay for pain sensitivity as compared to littermate controls and mice on the FVB/N and 129S6/SvEvTac backgrounds
• mice exhibit a lower latency to start crossing and spent a shorter time crossing in beam walking test as compared to littermate controls
• decreased number of rears in open field test as compared to littermate controls
• mice travel less in center of the open field test during first 10 minutes of test

integument
• Background Sensitivity: mice exhibit a longer tail flick latency in the first trial of the tail-flick assay for pain sensitivity as compared to littermate controls and mice on the FVB/N and 129S6/SvEvTac backgrounds

growth/size/body
• mice exhibit lower body weight than controls


Mouse Genome Informatics
hm3
    Shank3tm1.2Bux/Shank3tm1.2Bux
FVB.B6(Cg)-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected homozygotes (17.71%) were produced from a heterozygote x heterozygote cross
• Background Sensitivity: homozygote lethality is background dependent, the greatest loss is observed on the 129S6 background, followed by FVB/N and C57BL/6

behavior/neurological
N
• Background Sensitivity: tail flick latency is observed in mice on the C57BL/6 background, but not on FVB/N or 129S6/SvEvTac backgrounds (J:206790)
• mice are more active in elevated zero maze as determined by increases in total moving distance and total moving time
• time spent in open arc entries is increased and in closed arcs decreased in elevated zero-maze
• homozygous mice exhibit a preference for the unfamiliar mouse rather than the familiar mouse as compared to littermate controls
• increased number of rears in open field test as compared to littermate controls

growth/size/body
• mice exhibit lower body weight than controls


Mouse Genome Informatics
ht4
    Shank3tm1.2Bux/Shank3+
129S6.B6(Cg)-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• open arc entries are increased in elevated zero-maze as compared to littermate controls
• fewer mice were able to cross beam due to freezing/falls as compared to littermate controls
• mice exhibit hyperactivity in first 10 minutes of open field test, but return to activity level similar to controls


Mouse Genome Informatics
ht5
    Shank3tm1.2Bux/Shank3+
B6N.Cg-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mice travel less in the center of the open field test during last 10 minutes of test as compared to littermate controls


Mouse Genome Informatics
ht6
    Shank3tm1.2Bux/Shank3+
C57BL/6-Shank3tm1.2Bux
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• spine enlargement accompanying long term potentiation is impaired
• decrease in the paired pulse ratio
• reduction in the I/O curves of field excitatory postsynaptic potentials in hippocampal slices from 3-4 week old mice
• decrease in AMPA receptor mediated field potentials
• initial expression of LTP is normal but maintenance is impaired
• significantly higher frequency of miniature excitatory postsynaptic currents

behavior/neurological
• total social sniffing by the males is lower
• however, no defect in olfactory abilities are detected
• fewer ultrasonic vocalizations emitted during male-female social interactions session

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:175320