Mouse Genome Informatics
cn1
    Atrxtm1Rjg/Y
Tg(Gata1-cre)1Sho/0

involves: 129P2/OlaHsd * C57BL/6 * CD-1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the expected number of males are detected at E8.5 but fewer than expected are found at E9.5 and no males are found after E9.5

embryogenesis
• dramatic reduction in trophectoderm surrounding the embryo at E8.5
• reduced numbers of terminally differentiated trophoblast giant cells at E7.5 and E8.5
• defect is in formation of secondary trophoblast cells; however, development of primary cells is similar to wild-type
• abnormally shaped at E8.5
• reduced in size at E8.5
• highly disorganized; however overall morphology of the embryonic tissues is similar to wild-type

growth/size/body

cellular
• significant decrease in the number of mitotic cells at E7.5


Mouse Genome Informatics
cn2
    Atrxtm1Rjg/Atrx+
Tg(Gata1-cre)1Sho/0

involves: 129P2/OlaHsd * C57BL/6 * CD-1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected found at E9.5; however, unlike hemizygous males some females do survive

reproductive system
• some surviving females can reproduce

behavior/neurological
• surviving females display mild behavioral abnormalities

cellular
• in surviving females expression of the paternal wild-type allele is seen in extraembryonic tissues; however, random X inactivation in the embryo is normal


Mouse Genome Informatics
cn3
    Atrxtm1Rjg/Y
Foxg1tm1(cre)Skm/Foxg1+

involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant males die within 24 - 48 hours of birth, with only 1 male surviving to 24 days of age

behavior/neurological
• mutant males lack milk in their stomachs
• mutant males do not suckle well

growth/size/body
• mutants are smaller at birth

nervous system
• the dentate gyrus is replaced by a mass of disorganized cells
• reduced numbers of CA1 and CA3 pyramidal neurons are seen
• the subiculum and hippocampus are reduced in size
• the frontal cortex is reduced in size especially in the caudal-medial cortex and cell density is decreased in the cortex as a result of increased cell death and not a change in proliferation
• cell numbers in the cortical plate are reduced by 20-30%
• cell loss is not seen at E13.5 but is significant at E15.5


Mouse Genome Informatics
cn4
    Atrxtm1Rjg/Y
Tg(Nes-cre)2472Pick/0

involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• reduced postnatal survival similar to Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm

growth/size/body
• mutants are smaller at birth

nervous system
• not as severe as in Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm
• the frontal cortex is reduced in size especially in the caudal-medial cortex similar to Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm but the severity of loss is decreased


Mouse Genome Informatics
cn5
    Atrxtm1Rjg/Y
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
• cellularity is reduced 15% while the number of ganglion cells is normal
• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal
• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice
• however, the a-wave is normal

nervous system
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas