Phenotypes Associated with This Genotype

Genotype
MGI:5428846

• Allelic Composition: Pals1^tm1Caw/Pals1^tm1Caw; Tg(rx3-icre)1Mjam/0
• Genetic Background: Not Specified

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

vision/eye

increased retina apoptosis ( J:184469 )

• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35

microphthalmia ( J:184469 )

• moderate-to-severe

abnormal retina morphology ( J:184469 )

• at E17.5, retinal folds are more frequent and prominent compared to in control mice

• at E17.5, retinal exhibit variable thickness unlike in control mice

• at P0, retina exhibit more regular pseudorossettes with mature shape unlike in control mice

• at P14, retinal lamina is locally thinner and severely disorganized compared to in control mice

retina ganglion cell degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

disorganized retina ganglion layer ( J:184469 )

• at P0

thin retina ganglion layer ( J:184469 )

• at P0

abnormal retina inner plexiform layer morphology ( J:184469 )

• thin and disorganized at P0

thin retina inner plexiform layer ( J:184469 )

• at P0

abnormal retina outer nuclear layer morphology ( J:184469 )

• less regular appearance compared to in control mice

• locally extruded towards the retinal pigment epithelium side

thin retina outer nuclear layer ( J:184469 )

• at P60

disorganized retina outer nuclear layer ( J:184469 )

• at P60

retina outer nuclear layer degeneration ( J:184469 )

• completely absent in severely affected adult mice

abnormal retina photoreceptor layer morphology ( J:184469 )

• at P35 and P60, the photoreceptor layer is either partially or completely devoid unlike in control mice

abnormal retina photoreceptor morphology ( J:184469 )

• some photoreceptors lack both inner and outer segments

absent photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

abnormal photoreceptor outer segment morphology ( J:184469 )

• cells are reduced in size and are rounded unlike in control cells

absent photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

abnormal retina rod cell morphology ( J:184469 )

• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments

retina photoreceptor degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

abnormal retina outer limiting membrane morphology ( J:184469 )

• discontinuous and disrupted

increased susceptibility to age-related retinal degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages, mice exhibit degeneration of retinal cells in the photoreceptor, inner nuclear and ganglion cell layers unlike in control mice

retina fold ( J:184469 )

• at E17.5, retinal folds are more frequent and prominent compared to in control mice

abnormal eye electrophysiology ( J:184469 )

• at P35, mice exhibit severely reduced electroretinograms compared with control mice

abnormal rod electrophysiology ( J:184469 )

• at P60, mice exhibit reduced or almost undetectable a- and b-waves compared with control mice

cellular

increased retina apoptosis ( J:184469 )

• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35

abnormal cell proliferation ( J:184469 )

• at E15.5 and E17.5, retinas exhibit a disorganized pattern of proliferating cells unlike in control mice

decreased cell proliferation ( J:184469 )

• slightly in the retina at E17.5

immune system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

nervous system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

astrocytosis ( J:184469 )

• in the retina at P21, P35 and P60

retina ganglion cell degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

abnormal retina photoreceptor morphology ( J:184469 )

• some photoreceptors lack both inner and outer segments

absent photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

abnormal photoreceptor outer segment morphology ( J:184469 )

• cells are reduced in size and are rounded unlike in control cells

absent photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

abnormal retina rod cell morphology ( J:184469 )

• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments

retina photoreceptor degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

hematopoietic system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis		DOID:14791	OMIM:PS204000	J:184469