Allele Symbol Allele Name Allele ID |
Rettm2.1Cos targeted mutation 2.1, Frank Costantini MGI:2136896 |
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Summary |
6 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• in most mice, normal secretory cells are replaced with abnormal cells with higher density of nuclei and less volume of basophilic cytoplasm suggestive of pheochromocytoma
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• in most mice, normal secretory cells are replaced with abnormal cells with higher density of nuclei and less volume of basophilic cytoplasm suggestive of pheochromocytoma
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• newborns have bilateral malformations of the adrenal glands
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• mice show incomplete enclosure of the adrenal medulla
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• mice show display nodular chromaffin cell hyperplasia as early as 4 months of age
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• apparent as early as 5 months of age and in every mutant by 6 months of age
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• at 6-10 months of age, 26% display diffuse C-cell hyperplasia and 60% display more advanced nodular C-cell hyperplasia
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• mice show display nodular chromaffin cell hyperplasia as early as 4 months of age
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• develop ganglioneuromas of the adrenal medulla however do not develop ganglioneuromas of the intestinal tract or mucosa
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• consistently display neuromatous enlargement of the sympathetic ganglia along the medial aspect of the adrenal glands and invasion of the sympathetic ganglia into the adrenal gland
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• apparent as early as 5 months of age and in every mutant by 6 months of age
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• develop ganglioneuromas of the adrenal medulla however do not develop ganglioneuromas of the intestinal tract or mucosa
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• 83% of males could not impregnate wild-type females although they exhibited normal mounting behavior and had normal gonads and produced mature sperm
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | familial medullary thyroid carcinoma | DOID:0050547 |
OMIM:155240 |
J:60659 |
multiple endocrine neoplasia type 2B | DOID:10016 |
OMIM:162300 |
J:60659 | |
pheochromocytoma | DOID:0050771 |
OMIM:171300 |
J:60659 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 16-17% display nodular chromaffin cell hyperplasia, rarely progressing to pheochromocytoma
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• 31% of young and 41% of older mutants display diffuse C-cell hyperplasia and 14% have more advanced nodular C-cell hyperplasia
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• 16-17% display nodular chromaffin cell hyperplasia, rarely progressing to pheochromocytoma
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | familial medullary thyroid carcinoma | DOID:0050547 |
OMIM:155240 |
J:60659 |
multiple endocrine neoplasia type 2B | DOID:10016 |
OMIM:162300 |
J:60659 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• do not exhibit ganglioneuromas, nodular chromaffin cell hyperplasia or pheochromocytomas
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N |
• males are fertile
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | multiple endocrine neoplasia type 2B | DOID:10016 |
OMIM:162300 |
J:60659 |
NOT | pheochromocytoma | DOID:0050771 |
OMIM:171300 |
J:60659 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice begin to die around 100 days of age, with 50% survival at 250 days of age
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• mice develop stroma-poor neuroblastoma, with the majority of tumors showing signs of differentiation
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• mice develop stroma-poor neuroblastoma, with the majority of tumors showing signs of differentiation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
neuroblastoma | DOID:769 | J:261033 |
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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