Phenotypes Associated with This Genotype

Genotype
MGI:3583331

• Allelic Composition: Ret^tm2.1Cos/Ret^tm2.1Cos
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:60659 )

• newborns have bilateral malformations of the adrenal glands

abnormal adrenal medulla morphology ( J:60659 )

• mice show incomplete enclosure of the adrenal medulla

adrenergic chromaffin cell hyperplasia ( J:60659 )

• mice show display nodular chromaffin cell hyperplasia as early as 4 months of age

thyroid gland hyperplasia ( J:60659 )

• at 6-10 months of age, 26% display diffuse C-cell hyperplasia and 60% display more advanced nodular C-cell hyperplasia

increased pheochromocytoma incidence ( J:60659 )

• apparent as early as 5 months of age and in every mutant by 6 months of age

nervous system

adrenergic chromaffin cell hyperplasia ( J:60659 )

• mice show display nodular chromaffin cell hyperplasia as early as 4 months of age

increased ganglioneuroma incidence ( J:60659 )

• develop ganglioneuromas of the adrenal medulla however do not develop ganglioneuromas of the intestinal tract or mucosa

abnormal sympathetic ganglion morphology ( J:60659 )

• 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

neoplasm

increased pheochromocytoma incidence ( J:60659 )

• apparent as early as 5 months of age and in every mutant by 6 months of age

increased ganglioneuroma incidence ( J:60659 )

• develop ganglioneuromas of the adrenal medulla however do not develop ganglioneuromas of the intestinal tract or mucosa

reproductive system

male infertility ( J:60659 )

♂ • 83% of males could not impregnate wild-type females although they exhibited normal mounting behavior and had normal gonads and produced mature sperm

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