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

involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:145002)
• between P10 and P17, mice exhibit a loss of amacrine cells (J:145002)
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice (J:145002)
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice (J:145002)
• however, embryonic development of amacrine cells is normal (J:145002)
• loss of horizontal cells after P5 (J:145002)
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas (J:145002)
• cellularity is reduced 15% while the number of ganglion cells is normal (J:145002)
• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal (J:145002)
• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice (J:145002)
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice (J:145002)
• however, the a-wave is normal (J:145002)

nervous system
• between P10 and P17, mice exhibit a loss of amacrine cells (J:145002)
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice (J:145002)
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice (J:145002)
• however, embryonic development of amacrine cells is normal (J:145002)
• loss of horizontal cells after P5 (J:145002)
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas (J:145002)

Mouse Models of Human Disease
OMIM IDRef(s)
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX 301040 J:145002