Mouse Genome Informatics
hm
    Cngb1tm1Sjpi/Cngb1tm1Sjpi
involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks
• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls
• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen
• at P60 outer segments contain elongated membranous material that most likely originates from the disks
• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration
• complete loss of the photoreceptor layer by 1 year of age
• rods have smaller circulating currents and are less sensitive to light stimulation compared to wild-type controls

growth/size
N
• unlike mice homozygous for Cngb1tm1.1Biel, body weight is similar to controls (J:150504)

nervous system
• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks
• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls
• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen
• at P60 outer segments contain elongated membranous material that most likely originates from the disks
• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration
• complete loss of the photoreceptor layer by 1 year of age

Mouse Models of Human Disease
OMIM IDRef(s)
Retinitis Pigmentosa; RP 268000 J:150504