Mouse Genome Informatics
hm1
    Tap1tm1Hpl/Tap1tm1Hpl
either: (involves: 129S2/SvPas * 129/Ola) or (involves: 129S2/SvPas * FVB)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• no immune system abnormalites are detected (J:60782)


Mouse Genome Informatics
cx2
    B2mtm1Jae/B2mtm1Jae
Tap1tm1Hpl/Tap1tm1Hpl

B6.129-B2mtm1Jae Tap1tm1Hpl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• 52% of P13 mice and 57% of adult mice have enlarged lateral ventricles
• area of the ipsilateral projection is increased compared to controls
• in some cases, multiple ectopic clusters of inputs are present in the medial areas of the LGN
• retinogeniculate axons, glomeruli and bouton appear normal
• increase in size of excitatory presynaptic boutons
• mice exhibit significantly fewer perforations at hippocampal synapses that wild-type
• presynaptic nerve terminals contain 10% more synaptic vesicles than wild-type
• LTP in response to tetanus is enhanced by approximately 227% as compared to wild type
• 40% increase in frequency in hippocampal neurons
• 100% increase in frequency in layer 4 cortical neurons
• median amplitude is similar to wild-type in hippocampal and layer 4 neurons
• treatment with the neural activity blocker, Tetrodotoxin (TTX), does not increase mEPSC in mutant hippocampal cultures in contrast to increases in both amplitude and frequency observed in wild-type
• 900 pulses at 1 Hz enhances baseline LTD, but LTD is unchanged in wild-type
• 900 pulses at 0.5 Hz does not induce significant LTD in contrast to wild-type response


Mouse Genome Informatics
cx3
    Msh2tm1Htr/Msh2tm1Htr
Tap1tm1Hpl/Tap1tm1Hpl

involves: 129P2/OlaHsd * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• mice that survive beyond 30 weeks exhibit a multitude of tumors types (erythroid, intestine, skin, uterus, mammary gland, lung, intestine, and hereditary nonpolyposis colorectal cancer)
• in mice that survive beyond 30 weeks
• 80% of mice that survive beyond 30 weeks develop Hereditary Nonpolyposis Colon Cancer (HNPCC) tumors
• in mice that survive beyond 30 weeks
• in mice that survive beyond 30 weeks (J:45433)
• in mice that survive beyond 30 weeks

integument
• in mice that survive beyond 30 weeks

Mouse Models of Human Disease
OMIM IDRef(s)
Lynch Syndrome I 120435 J:45433