RGD Reference Report - Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. - Rat Genome Database

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Recessive transmission of a multiple endocrine neoplasia syndrome in the rat.

Authors: Fritz, A  Walch, A  Piotrowska, K  Rosemann, M  Schaffer, E  Weber, K  Timper, A  Wildner, G  Graw, J  Hofler, H  Atkinson, MJ 
Citation: Fritz A, etal., Cancer Res 2002 Jun 1;62(11):3048-51.
RGD ID: 619590
Pubmed: PMID:12036912   (View Abstract at PubMed)

We describe a novel hereditary cancer syndrome in the rat that is transmitted by a recessive gene mutation. Animals exhibiting the mutant phenotype develop multiple neuroendocrine malignancies within the first year of life. The endocrine neoplasia is characterized by bilateral adrenal pheochromocytoma, multiple extra-adrenal pheochromocytoma, bilateral medullary thyroid cell neoplasia, bilateral parathyroid hyperplasia, and pituitary adenoma. The appearance of neoplastic disease is preceded by the development of bilateral juvenile cataracts. Although the spectrum of affected tissues is reminiscent of human forms of multiple endocrine neoplasia (MEN), no germ-line mutations were detected in the Ret or Menin genes that are responsible for the dominantly inherited MEN syndromes in humans. Segregation studies in F1 and F2 crosses yielded frequencies of affected animals entirely consistent with a recessive autosomal mode of inheritance. The lack of the phenotype in F1 animals effectively excludes a germ-line tumor suppressor gene mutation as the causal event. The absence of mutation of known MEN genes and the unique constellation of affected tissues, plus the recessive mode of inheritance, lead us to conclude that the mutation of an as yet unknown gene is responsible for this syndrome of inherited neuroendocrine cancer.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CDKN1BHumancataract  ISORGD:69062 RGD 
Cdkn1bMousecataract  ISORGD:69062 RGD 
Cdkn1bRatcataract  IAGP  RGD 
Cdkn1bweRatcataract  IAGP  RGD 
SD-Cdkn1bweRatcataract  IAGP  RGD 
CDKN1BHumanmultiple endocrine neoplasia  ISORGD:69062 RGD 
Cdkn1bMousemultiple endocrine neoplasia  ISORGD:69062 RGD 
Cdkn1bRatmultiple endocrine neoplasia  IAGP  RGD 
Cdkn1bweRatmultiple endocrine neoplasia  IAGP  RGD 
SD-Cdkn1bweRatmultiple endocrine neoplasia  IAGP  RGD 
MEN1Humanmultiple endocrine neoplasia type 1 no_associationISORGD:3078 RGD 
Men1Ratmultiple endocrine neoplasia type 1 no_associationIDA  RGD 
Men1Mousemultiple endocrine neoplasia type 1 no_associationISORGD:3078 RGD 
CDKN1BHumanparaganglioma  ISORGD:69062 RGD 
Cdkn1bMouseparaganglioma  ISORGD:69062 RGD 
Cdkn1bRatparaganglioma  IAGP  RGD 
Cdkn1bweRatparaganglioma  IAGP  RGD 
SD-Cdkn1bweRatparaganglioma  IAGP  RGD 
CDKN1BHumanpheochromocytoma  ISORGD:69062 RGD 
Cdkn1bRatpheochromocytoma  IAGP  RGD 
Cdkn1bMousepheochromocytoma  ISORGD:69062 RGD 
Cdkn1bweRatpheochromocytoma  IAGP  RGD 
SD-Cdkn1bweRatpheochromocytoma  IAGP  RGD 
CDKN1BHumanpituitary adenoma  ISORGD:69062 RGD 
Cdkn1bMousepituitary adenoma  ISORGD:69062 RGD 
Cdkn1bRatpituitary adenoma  IAGP  RGD 
Cdkn1bweRatpituitary adenoma  IAGP  RGD 
SD-Cdkn1bweRatpituitary adenoma  IAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Objects Annotated

Genes (Rattus norvegicus)
Cdkn1b  (cyclin-dependent kinase inhibitor 1B)
Cdkn1bwe  (cyclin-dependent kinase inhibitor 1B; white eye mutation)
Men1  (menin 1)

Genes (Mus musculus)
Cdkn1b  (cyclin dependent kinase inhibitor 1B)
Men1  (multiple endocrine neoplasia 1)

Genes (Homo sapiens)
CDKN1B  (cyclin dependent kinase inhibitor 1B)
MEN1  (menin 1)

Strains
SD-Cdkn1bwe  (NA)


Additional Information