homeostasis/metabolism
• phosphorylation of high mannose oligosaccharides is abolished
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Allele Symbol Allele Name Allele ID |
GnptabGt(OST97730)Lex gene trap OST97730, Lexicon Genetics MGI:3757945 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• phosphorylation of high mannose oligosaccharides is abolished
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• widespread vacuolization in the dorsal portion of Steno glands
• the ventral portion of the Steno glands is minimally affected
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• changes, such as abundant vacuoles, in secretory cells of several exocrine glands, including the pancreas, parotid salivary glands, submandibular salivary glands, Steno (lateral nasal) glands, bulbourethral glands, gastric glands, and pancreatic acinar cells
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• widespread vacuolization in the dorsal portion of Steno glands
• the ventral portion of the Steno glands is minimally affected
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• pancreatic lesions that are characterized by disorganization of tissue architecture; variably sized cells are tightly packed in clusters and are distended by large vacuoles containing amphophilic granular inclusions
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• decrease in size and number of zymogen granules at the apex of acinar cells
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• in parotid salivary glands, acinar cells are distended by large vacuoles that frequently contain small amounts of ill-defined amphophilic-staining tissue
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• acinar cells of the submandibular salivary gland are distended by large vacuoles and inclusions
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• widespread vacuolization in the bulbourethral glands
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• increase in apoptotic cells in the photoreceptor layer is seen at 1 month of age
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• photoreceptor degeneration that progresses slowly, such that at 10 months of age, degeneration is complete and atrophy of the retinal pigment epithelium is seen
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• retinal degeneration seen by 15 weeks of age
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• ERG analysis indicates that all photoreceptor function is ablated by 5 months of age
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• 6.7- to 13.9-fold increase in levels of lysosomal enzymes
• however, normal levels of lysosomal enzymes in eye lysates
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• tracheal chondrocytes are hypertrophic and completely fill their enlarged lacunae
• cytoplasm of hypertrophic chondrocytes is distended by scanty amounts of finely granular amphophilic material and abundant microvacuoles instead of a single large, clear vacuole
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• photoreceptor degeneration that progresses slowly, such that at 10 months of age, degeneration is complete and atrophy of the retinal pigment epithelium is seen
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• widespread vacuolization in the bulbourethral glands
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• pancreatic lesions that are characterized by disorganization of tissue architecture; variably sized cells are tightly packed in clusters and are distended by large vacuoles containing amphophilic granular inclusions
|
• decrease in size and number of zymogen granules at the apex of acinar cells
|
• in parotid salivary glands, acinar cells are distended by large vacuoles that frequently contain small amounts of ill-defined amphophilic-staining tissue
|
• acinar cells of the submandibular salivary gland are distended by large vacuoles and inclusions
|
• widespread vacuolization in the dorsal portion of Steno glands
• the ventral portion of the Steno glands is minimally affected
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• widespread vacuolization in the dorsal portion of Steno glands
• the ventral portion of the Steno glands is minimally affected
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
mucolipidosis II alpha/beta | DOID:0080070 |
OMIM:252500 |
J:127156 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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