Phenotypes Associated with This Genotype

Genotype
MGI:6197758

• Allelic Composition: Pomt1^{tm1c(EUCOMM)Hmgu}/Pomt1^{tm1c(EUCOMM)Hmgu}; Tg(Crx-cre)1Tfur/0
• Genetic Background: involves: C57BL/6N
• Cell Lines: HEPD0522_6_C03, HEPD0522_6_F02

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina bipolar cell morphology ( J:263043 )

• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer

thin retina outer nuclear layer ( J:263043 )

• thickness of the outer nuclear layer is reduced

abnormal retina outer plexiform layer morphology ( J:263043 )

• loss of the normal arrangement of synaptic proteins in the outer half of the outer plexiform layer

thin retina outer plexiform layer ( J:263043 )

• thickness of the outer plexiform layer is reduced

increased b-wave implicit time ( J:263043 )

• significant delay in the scotopic and mesopic b-waves, as reflected by their longer implicit time

• increase in the photopic b-wave implicit time

decreased b-wave amplitude ( J:263043 )

• 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

abnormal vision ( J:263043 )

• in the water maze, mice fail to learn and do not improve their success rate due to visual impairment

behavior/neurological

abnormal optokinetic reflex ( J:263043 )

• 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

abnormal innervation ( J:263043 )

• 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

abnormal axon morphology ( J:263043 )

• shortening of cone axons

abnormal synaptic bouton morphology ( J:263043 )

• 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 dendrite morphology ( J:263043 )

• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer

abnormal retina bipolar cell morphology ( J:263043 )

• abnormal sprouting of dendrites from bipolar cells protruding into the outer nuclear layer

abnormal ribbon synapse morphology ( J:263043 )

• dendritic processes of bipolar and horizontal cells are not inserted into the invaginations of ribbon synapses

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:263043