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Phenotypes Associated with This Genotype
Genotype
MGI:6197758
Allelic
Composition
Pomt1tm1c(EUCOMM)Hmgu/Pomt1tm1c(EUCOMM)Hmgu
Tg(Crx-cre)1Tfur/0
Genetic
Background
involves: C57BL/6N
Cell Lines HEPD0522_6_C03, HEPD0522_6_F02
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pomt1tm1c(EUCOMM)Hmgu mutation (1 available); any Pomt1 mutation (39 available)
Tg(Crx-cre)1Tfur mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer
• thickness of the outer nuclear layer is reduced
• loss of the normal arrangement of synaptic proteins in the outer half of the outer plexiform layer
• thickness of the outer plexiform layer is reduced
• significant delay in the scotopic and mesopic b-waves, as reflected by their longer implicit time
• increase in the photopic b-wave implicit time
• under scotopic conditions, the ERG b-wave elicited in dark-adopted mice is severely reduced, with decreased b-wave amplitude
• under photopic conditions, the ERG b-wave elicited in light-adapted mice is lower than in controls for any tested light intensity
• however, a-waves are similar to control mice, indicating normal function of photoreceptors
• in the water maze, mice fail to learn and do not improve their success rate due to visual impairment

behavior/neurological
• responses induced by screen rotation at different spatial frequencies of alternating white and black stripes are lower and contrast sensitivity in the range 0.044-0.177 cycles/degree is weaker than in controls, indicating a strong visual impairment

nervous system
• dendritic projections from bipolar and horizontal cells are altered
• horizontal cell dendritic projections barely reach their location laterally to the synaptic ribbon and bipolar cell dendritic projections fail to meet photoreceptor synaptic terminals
• shortening of cone axons
• misalignment of presynaptic terminals of photoreceptors in the outer plexiform layer in specific areas of the retina
• mitochondria in both rod and cone axon terminals are reduced in number, appear swollen and show severe disruption of cristae
• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer
• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer
• dendritic processes of bipolar and horizontal cells are not inserted into the invaginations of ribbon synapses


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory