Phenotypes Associated with This Genotype

Genotype
MGI:3581209

• Allelic Composition: Tyr^c-2J/Tyr^c-2J
• Genetic Background: B6(Cg)-Tyr^c-2J/J

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

Tyr^c-2J/Tyr^c-2J

pigmentation

absent coat pigmentation ( J:27522 , J:178454 )

• albino coat (J:27522)

• nitisinone treatment has no effect on pigmentation (J:178454)

absent skin pigmentation ( J:36008 )

ocular albinism ( J:141035 , J:178454 )

• total iris albinism (J:141035)

abnormal melanosome morphology ( J:178454 )

• absence of pigment in melanosomes

absent hair follicle melanin granules ( J:6611 )

• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

vision/eye

ocular albinism ( J:141035 , J:178454 )

• total iris albinism (J:141035)

abnormal aqueous drainage system morphology ( J:82280 )

• had mild focal angle developmental defects, whereas pigmented mice had no observed defects

abnormal retina morphology ( J:77026 )

• increased total number of cells in temporal retina during E11-13

• sustained, early production of ipsilateral retinal ganglion cells up to E14

• increased surface area of temporal retina, as well as additional sectors during E11-13

abnormal retina photoreceptor morphology ( J:99554 )

• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J

decreased retina photoreceptor cell number ( J:92276 )

• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

abnormal retina ganglion layer morphology ( J:77026 )

• beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization

retina degeneration ( J:92276 )

abnormal eye physiology ( J:99553 )

• resistant to light damage as compared to albino BALB/cByJ

decreased a-wave amplitude ( J:92276 )

• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

decreased b-wave amplitude ( J:92276 )

• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

abnormal intraocular pressure ( J:82879 )

• increased pressure as compared to pigmented C57BL/6J

abnormal vision ( J:99554 )

• dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J

nervous system

abnormal retina photoreceptor morphology ( J:99554 )

• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J

decreased retina photoreceptor cell number ( J:92276 )

• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

cellular

increased cellular sensitivity to ionizing radiation ( J:112959 )

• mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild-type or forskolin-treated Mc1r^e mutants show little damage

abnormal keratinocyte apoptosis ( J:112959 )

integument

abnormal keratinocyte apoptosis ( J:112959 )

absent hair follicle melanin granules ( J:6611 )

• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

absent coat pigmentation ( J:27522 , J:178454 )

• albino coat (J:27522)

• nitisinone treatment has no effect on pigmentation (J:178454)

absent skin pigmentation ( J:36008 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
buphthalmos		DOID:11211	OMIM:231300	J:82280
oculocutaneous albinism		DOID:0050632	OMIM:PS203100	J:178454