Phenotypes Associated with This Genotype

Genotype
MGI:4450918

• Allelic Composition: Best1^tm1.1Amar/Best1⁺
• Genetic Background: involves: 129X1/SvJ * BALB/c

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

vision/eye

abnormal retina pigment epithelium morphology ( J:157645 )

• disrupted discs in photoreceptor outer segment

• lipofuscin granule accumulation in the RPE

retina detachment ( J:157645 )

• localized serous retinal detachments as early as 6 months of age

abnormal eye physiology ( J:157645 )

• ATP-stimulated Ca ion signaling was suppressed in the RPE

abnormal eye electrophysiology ( J:157645 )

• light peak (LP) responses were enhanced at low stimulus intensities and reduced in the middle of the intensity range

• altered light peak (LP) luminance response

pigmentation

abnormal retina pigment epithelium morphology ( J:157645 )

• disrupted discs in photoreceptor outer segment

• lipofuscin granule accumulation in the RPE

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
bestrophinopathy		DOID:0050662	OMIM:611809	J:157645
vitelliform macular dystrophy		DOID:0050661	OMIM:153700 OMIM:153840 OMIM:608161 OMIM:616151 OMIM:616152	J:157645