Mouse Genome Informatics
hm1
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
129P2(C)-Cecr2Gt(pGT1)1Hemc
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
exencephaly ( J:96325 )
• 63% penetrance of exencephaly

Mouse Models of Human Disease
 OMIM IDRef(s)
Anencephaly 206500 J:96325


Mouse Genome Informatics
hm2
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
C.129P2-Cecr2Gt(pGT1)1Hemc
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
abnormal neural tube morphology/development ( J:177709 )
• increased cranial neural tube width
exencephaly ( J:96325 , J:177709 )
• 74% penetrance of exencephaly (J:96325)
• penetrance is 74% at N6 and 69% at greater than N10 (J:177709)

embryogenesis
abnormal neural tube morphology/development ( J:177709 )
• increased cranial neural tube width

Mouse Models of Human Disease
 OMIM IDRef(s)
Anencephaly 206500 J:96325


Mouse Genome Informatics
hm3
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
FVB.129P2(C)-Cecr2Gt(pGT1)1Hemc
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
nervous system phenotype ( J:96325 )
N
• exencephaly penetrance was 0% unlike in other genetic backgrounds (J:96325)
abnormal neural tube morphology/development ( J:177709 )
• increased cranial neural tube width
delayed neural tube closure ( J:177709 )
• at the 16 somite stage the neural tube is closed in only about half the embryos
exencephaly ( J:177709 )
• penetrance is 1.6% at greater than N10

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:177709 )
N
• no cochlear defects are detected (J:177709)

embryogenesis
abnormal neural tube morphology/development ( J:177709 )
• increased cranial neural tube width
delayed neural tube closure ( J:177709 )
• at the 16 somite stage the neural tube is closed in only about half the embryos

Mouse Models of Human Disease
 OMIM IDRef(s)
NOT Anencephaly 206500 J:96325


Mouse Genome Informatics
hm4
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
involves: 129P2/OlaHsd * BALB/c
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging
partial perinatal lethality ( J:96325 )
• most homozygous mutants die perinatally, however 7.5% of homozgygotes are found at weaning and these are indistinguishable from wildtype

vision/eye
absent eyelids ( J:96325 )
• some homozygous mutants lacked eyelids

nervous system
exencephaly ( J:96325 )
• neural tube defect exencephaly was observed at a frequency of 67% in homozygotes

Mouse Models of Human Disease
 OMIM IDRef(s)
Anencephaly 206500 J:96325


Mouse Genome Informatics
hm5
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
involves: 129P2/OlaHsd * BALB/c * FVB/N
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
exencephaly ( J:96325 )
• 36% penetrance of exencephaly


Mouse Genome Informatics
hm6
     Cecr2Gt(pGT1)1Hemc/Cecr2Gt(pGT1)1Hemc
involves: C.129P2-Cecr2Gt(pGT1)1Hemc * FVB.129P2(C)-Cecr2Gt(pGT1)1Hemc
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
exencephaly ( J:96325 )
• exencephaly appeared only in one in 35 homozygous mutant embryos


Mouse Genome Informatics
ht7
     Cecr2Gt(pGT1)1Hemc/Cecr2+
C.129P2-Cecr2Gt(pGT1)1Hemc
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
delayed neural tube closure ( J:177709 )
• at the 14 and 16 somite pair stage the percentage of mice with a closed neural tube is decreased compared to wild-type controls

embryogenesis
delayed neural tube closure ( J:177709 )
• at the 14 and 16 somite pair stage the percentage of mice with a closed neural tube is decreased compared to wild-type controls


Mouse Genome Informatics
ht8
     Cecr2Gt(pGT1)1Hemc/Cecr2+
involves: 129P2/OlaHsd * BALB/c
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
exencephaly ( J:96325 )
• observed exencephaly at a low frequency of 3.5% in heterozygotes