Mouse Genome Informatics
hm1
    Nrcamtm1Gmt/Nrcamtm1Gmt
either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Swiss Webster)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Lobes IV and V of the cerebellum are smaller in Nrcamtm1Gmt/Nrcamtm1Gmt mice

nervous system
• reduced size of lobes IV and V; these lobes contained 11% less gray matter than control littermates; lobes I, II and X are also slightly reduced in size
• isolated cerebellar cells fail to extend neurites in response to contactin, however neurites still extend in response to RPTPbeta


Mouse Genome Informatics
hm2
    Nrcamtm1Gmt/Nrcamtm1Gmt
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• Purkinje dendrites appear normal (J:136656)


Mouse Genome Informatics
hm3
    Nrcamtm1Gmt/Nrcamtm1Gmt
involves: 129S6/SvEvTac * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• sodium ion channels are absent from heminodes unlike in wild-type mice
• heminodes fail to form unlike in wild-type mice
• however, nodes form normally


Mouse Genome Informatics
hm4
    Nrcamtm1Gmt/Nrcamtm1Gmt
involves: 129S6/SvEvTac * Swiss Webster
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• males and females display a longer latency to reach the escape platform in the reversal phase
• in a rotarod test females, but not males, show a shorter latency to fall in retests suggesting an impairment in the improvement normally seen across trials
• females but not males display a longer latency to find a hidden platform
• in a 1 h open field test females display decreased activity during the beginning of the test and increased activity towards the end of the test relative to control females
• decrease in rearing frequency in an open field in females
• males fail to show a preference for a stranger mouse over an empty cage

nervous system
• small but significant decrease in males

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:153165


Mouse Genome Informatics
cx5
    Nfasctm1.1Brp/Nfasctm1.1Brp
Nrcamtm1Gmt/Nrcamtm1Gmt

involves: 129P2/OlaHsd * 129S6/SvEvTac * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• sodium ion channels are absent from heminodes unlike in wild-type mice


Mouse Genome Informatics
cx6
    Cntnap1tm1Pele/Cntnap1tm1Pele
Nrcamtm1Gmt/Nrcamtm1Gmt

involves: 129P2/OlaHsd * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

nervous system
• nodes and heminodes fail to form unlike in wild-type mice
• nodal length is increased compared to in wild-type mice

behavior/neurological
• strong congenital at P4


Mouse Genome Informatics
cx7
    L1camtm1Sor/L1cam+
Nrcamtm1Gmt/Nrcamtm1Gmt

involves: 129S6/SvEvTac * 129S7/SvEvBrd * Swiss Webster
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• increase in rate of postnatal death, especially during the first 1-2 weeks after birth (J:71828)


Mouse Genome Informatics
cx8
    L1camtm1Sor/Y
Nrcamtm1Gmt/Nrcam+

involves: 129S6/SvEvTac * 129S7/SvEvBrd * Swiss Webster
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• increase in rate of postnatal death, especially during the first 1-2 weeks after birth (J:71828)


Mouse Genome Informatics
cx9
    L1camtm1Sor/Y
Nrcamtm1Gmt/Nrcamtm1Gmt

involves: 129S6/SvEvTac * 129S7/SvEvBrd * Swiss Webster
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Cerebellar abnormalities in L1camtm1Sor/Y Nrcamtm1Gmt/Nrcamtm1Gmt mice

mortality/aging
• do not detect any mutants at P8 (J:71828)

growth/size
• body weights of pups are 40-70% of control littermates at P3-P6 (J:71828)

nervous system
• cerebellar dysgenesis (J:71828)
• cerebellar fissures are less developed (J:71828)
• thickness of the inner granule layer is reduced by 40-50% (J:71828)
• marker analysis indicates defects in foliation (J:71828)
• thickness of the external granule layer is reduced by 10-30% (J:71828)
• cerebellar lobes are less developed (J:71828)
• marker analysis indicates possible defects in granule cells during cerebellar development (J:71828)
• thickness of the inner granule layer is reduced by 40-50% (J:71828)
• thickness of the external granule layer is reduced by 10-30% (J:71828)
(J:71828)