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Phenotypes Associated with This Genotype
Genotype
MGI:3038948
Allelic
Composition
Rlbp1tm1Jsa/Rlbp1tm1Jsa
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rlbp1tm1Jsa mutation (0 available); any Rlbp1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• 3 out of 4 homozygotes were albino

vision/eye
• after being kept in constant light for more than 20 days less loss of photoreceptors occurred than in albino controls
• after 60 days in constant light the number of nuclei in the outer nuclear layer was reduced but still more than 4X that of albino controls
• did not occur in albino mice maintained in a normal light cycle unlike albino controls
• photoreceptor nuclei in the outer nuclear layer remainder normal unlike albino controls where the number is reduced
• regeneration of bleached rhodopsin required 18-24 hours as opposed to a more normal 1.5 hours
• little restoration of dark adaptation occurred in the 3 hours which was adequate for control mice
• cone recovery after bleaching was delayed by a factor of 2 relative to controls

nervous system
• after being kept in constant light for more than 20 days less loss of photoreceptors occurred than in albino controls
• after 60 days in constant light the number of nuclei in the outer nuclear layer was reduced but still more than 4X that of albino controls

integument
• 3 out of 4 homozygotes were albino

Mouse Models of Human Disease
OMIM ID Ref(s)
Bothnia Retinal Dystrophy 607475 J:68444


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory