Mouse Genome Informatics
hm
    Tyrc-2J/Tyrc-2J
B6(Cg)-Tyrc-2J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Tyrc-2J/Tyrc-2J

pigmentation
• albino coat (J:27522)
• nitisinone treatment has no effect on pigmentation (J:178454)
• total iris albinism (J:141035)
• absence of pigment in melanosomes
• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

vision/eye
• total iris albinism (J:141035)
• had mild focal angle developmental defects, whereas pigmented mice had no observed defects
• 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
• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J
• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels
• beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization
• resistant to light damage as compared to albino BALB/cByJ
• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram
• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram
• increased pressure as compared to pigmented C57BL/6J
• dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J

nervous system
• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J
• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

cellular
• mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild-type or forskolin-treated Mc1re mutants show little damage

integument
• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants
• albino coat (J:27522)
• nitisinone treatment has no effect on pigmentation (J:178454)

Mouse Models of Human Disease
OMIM IDRef(s)
Albinism, Oculocutaneous, Type IA; OCA1A 203100 J:178454
Glaucoma 3, Primary Congenital, A; GLC3A 231300 J:82280