Phenotypes Associated with This Genotype

Genotype
MGI:5688660

• Allelic Composition: Lrit3^tm1Lex/Lrit3^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

vision/eye

abnormal retina neuronal layer morphology ( J:214644 )

• Spectral-Domain Optical Coherence Tomography (SD-OCT) revealed that the thickness of a complex comprising inner plexiform layer, ganglion cell layer, and nerve fiber layer (IPL+GCL+NFL) is significantly decreased both at 6 weeks and at 6 months of age relative to wild-type and heterozygous controls

thin retina inner nuclear layer ( J:214644 )

• SD-OCT showed that INL thickness is significantly reduced both at 6 weeks and at 6 months of age relative to wild-type and heterozygous controls

• in contrast, no statistical differences are observed in outer nuclear layer (ONL) thickness at 6 months

increased a-wave implicit time ( J:214644 )

• under photopic conditions, homozygotes display increased a wave implicit times with increasing flash intensity

increased b-wave implicit time ( J:214644 )

• under photopic conditions, homozygotes display increased b wave implicit times with increasing flash intensity

increased a-wave amplitude ( J:214644 )

• under photopic conditions, homozygotes display larger a-wave amplitudes

decreased b-wave amplitude ( J:214644 )

• under photopic conditions, homozygotes display shorter b-wave amplitudes

abnormal cone electrophysiology ( J:214644 )

• under photopic conditions, 6-wk-old homozygotes show highly variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves relative to wild-type controls

• similar ERG responses are noted at 6 months of age

abnormal rod electrophysiology ( J:214644 )

• under scotopic conditions, homozygotes exhibit no b-wave on their ERG responses, while a-waves are comparable in amplitude or implicit time to those in wild-type or heterozygous controls

• absence of the scotopic b-wave is noted at both 6 weeks and at 6 months of age, indicating that the phenotype is stationary

• under scotopic conditions, optomotor responses (number of head movements per min) are significantly reduced at all spatial frequencies and at both ages

abnormal vision ( J:214644 )

• homozygotes exhibit visual dysfunction that affects both rod- and cone- ON-bipolar systems

• no obvious fundus autofluorescence abnormalities are observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 1F		DOID:0110864	OMIM:615058	J:214644