Phenotypes Associated with This Genotype

Genotype
MGI:6202467

• Allelic Composition: Abcb5^tm1.2Nyf/Abcb5^tm1.2Nyf
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

vision/eye

abnormal cornea morphology ( J:213708 )

• disorganized basal and wing cell layers

• null cornea grafts display opaque corneas, epithelial conjunctivalization and absence of differentiated Krt12+ cells at 5 weeks after transplantation

• null mice receiving wild-type cornea grafts display partial corneal restoration but with persistence of epithelial conjunctivalization

abnormal cornea epithelium morphology ( J:213708 )

• epithelial tight junction defects

cornea epithelium hypoplasia ( J:213708 )

• decreased cellularity of the apical epithelial layer

• epithelial cell numbers are reduced in the central cornea but not the limbus

abnormal retina morphology ( J:213708 )

abnormal photoreceptor inner segment morphology ( J:213708 )

• disruption of inner segments

abnormal photoreceptor outer segment morphology ( J:213708 )

• thinning and attenuation of outer segments

abnormal retina pigment epithelium morphology ( J:213708 )

• retinal pigment epithelial cells are enlarged and distended

abnormal retina outer nuclear layer morphology ( J:213708 )

• loss of cells associated with inner and outer photoreceptor segment abnormalities

abnormal eye physiology ( J:213708 )

• increased corneal fragility

• corneal wound closure rates are similar to control but corneal restoration is characterized by irregular epithelium with reduced cell numbers, increased cellular proliferation, and increased apoptosis

• increased proliferation of limbal stem cells indicating impaired cell cycle withdrawal

abnormal cornea wound healing ( J:213708 )

• corneal wound closure rates are similar to control but corneal restoration is characterized by irregular epithelium with reduced cell numbers, increased cellular proliferation, and increased apoptosis

homeostasis/metabolism

abnormal cornea wound healing ( J:213708 )

• corneal wound closure rates are similar to control but corneal restoration is characterized by irregular epithelium with reduced cell numbers, increased cellular proliferation, and increased apoptosis

nervous system

abnormal photoreceptor inner segment morphology ( J:213708 )

• disruption of inner segments

abnormal photoreceptor outer segment morphology ( J:213708 )

• thinning and attenuation of outer segments

pigmentation

abnormal retina pigment epithelium morphology ( J:213708 )

• retinal pigment epithelial cells are enlarged and distended

cellular

increased cell proliferation ( J:213708 )

• increased proliferation of limbal stem cells indicating impaired cell cycle withdrawal