Analysis Tools
mortality/aging
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• viability is very low
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• most die at weaning but infrequently some live several months
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pigmentation
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• homozygotes are white
(J:125080)
|
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• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
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• complete absence of pigment granules at E11.5 and at P0
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skeleton
|
• incisors fail to erupt
|
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• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
|
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• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
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osteopetrosis
(
J:30758
)
|
• probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells
• cells show defects in function and hormone response and fusion disability
|
vision/eye
|
• thicker and less folded than in control littermates at P0
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• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
• at all stages the mitotic values in the pigment layer is increased compared to controls
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• arching of the cup is reduced and the medial-lateral diameter is increased at E10.5
• abnormal morphology persists through E11.5
• at P0 the cup is poorly arched around the lens
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• increased diameter of the stalk at E10.5
• abnormal morphology persists through E11.5
• optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent
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• at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk
• in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap
• at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges
|
|
• first detectable at E14, becoming more obvious with age
(J:5046)
• the eyes are severely reduced in size
(J:125080)
|
|
• the lens fills the space normally occupied by the vitreous body
|
|
• at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
|
|
• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
|
|
• complete absence of pigment granules at E11.5 and at P0
|
|
• the nervous layer is irregular in thickness, folded and the strata are less clearly defined
• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
|
|
• remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen
|
immune system
|
• deficiency in gut and liver
|
|
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
|
|
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
|
nervous system
|
• at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
|
craniofacial
|
• incisors fail to erupt
|
hematopoietic system
|
• deficiency in gut and liver
|
|
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
|
|
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
|
hearing/vestibular/ear
|
• no section of the cochlear duct was ever found to be normal
|
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• abnormal in its entirety
|
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• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule
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integument
|
• homozygotes are white
(J:125080)
|
growth/size/body
|
• incisors fail to erupt
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ocular albinism with sensorineural deafness | DOID:0090100 | J:30758 | ||
| Tietz syndrome | DOID:0090002 |
OMIM:103500 |
J:30758 | |
| Waardenburg syndrome type 2A | DOID:0110950 |
OMIM:193510 |
J:30758 | |
