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 surface area of temporal retina, as well as additional sectors during E11-13
• increased total number of cells in temporal retina during E11-13
• sustained, early production of ipsilateral retinal ganglion cells up to E14
|
|
• 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
|
|
• 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 ID | Ref(s) | |
| Albinism, Oculocutaneous, Type IA; OCA1A | 203100 | J:178454 | |
| Glaucoma 3, Primary Congenital, A; GLC3A | 231300 | J:82280 | |
