Phenotypes Associated with This Genotype

Genotype
MGI:6716878

• Allelic Composition: Yap1^tm1.1Hmc/Yap1⁺
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * C57BL/6NCrl

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

vision/eye

cataract ( J:304126 )

• cataract is occasionally seen but only in about 8% of retinas

abnormal retina morphology ( J:304126 )

• retinal dysplasia, with highly variable severity

• from P21 onwards, some retinas show one or two dysplastic regions in either the central or dorsal retina; incidence of this phenotype is higher in older mice

• retinal dysplasia is never seen in the retinal pigment epithelium and no difference in the thickness of either the outer or the inner nuclear layers

• however, no defects in optic fissure closure are seen

decreased retina cone cell number ( J:304126 )

• the number of cones is decreased in ventral retinas, affecting both S-opsin and M-opsin labelled cones

• S-opsin labelled cones are also severely decreased in the mid-dorsal and the central retina

retina cone cell degeneration ( J:304126 )

• adults show progressive cone photoreceptor degeneration

abnormal retina progenitor cell morphology ( J:304126 )

• mice show a persistence of a population of proliferative cells in P6 retinas but not at P11, indicating that retinal progenitor cells show delayed cell-cycle exit in postnatal mice, eventually exiting the cell cycle between P6 and P11

retina gliosis ( J:304126 )

• GFAP expression is increased in 12-month-old retina indicating reactive gliosis

abnormal electroretinogram waveform feature ( J:304126 )

• mice show a reduction of the cone-mediated ERG response

• however, scotopic a- and b-waves are similar to controls at all stages, indicating normal rod photoreceptor function

decreased b-wave amplitude ( J:304126 )

• photopic b-wave amplitude is depressed in 12-month-old mice at high intensity stimuli

nervous system

decreased retina cone cell number ( J:304126 )

• the number of cones is decreased in ventral retinas, affecting both S-opsin and M-opsin labelled cones

• S-opsin labelled cones are also severely decreased in the mid-dorsal and the central retina

retina cone cell degeneration ( J:304126 )

• adults show progressive cone photoreceptor degeneration

abnormal ribbon synapse morphology ( J:304126 )

• 12-month-old retina shows a decrease in the number of Ribeye+ puncta, representing presynaptic ribbons, in photoreceptor terminals

• some ribbons do not exhibit the typical horseshoe shape suggesting compromised synapse integrity

• however, ribbons with proper shape are still present close to dendritic process of the rod-bipolar cell postsynaptic terminals, indicating a correct synaptic connection between rod photoreceptor and rod-bipolar cells

abnormal glial cell physiology ( J:304126 )

• marker analysis indicates altered Muller cell homeostatic function in aged mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone dystrophy		DOID:0050795		J:304126