Phenotypes Associated with This Genotype

Genotype
MGI:3710237

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Par; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

growth/size/body

decreased body size ( J:80323 )

respiratory system

respiratory failure ( J:80323 )

• pups do not initiate normal respiration

nervous system

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

abnormal sympathetic ganglion morphology ( J:80323 )

• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:80323 )

abnormal adrenal cortex morphology ( J:80323 )

• a thinning and distortion of the adrenal cortex

thin adrenal cortex ( J:80323 )

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

enlarged adrenal glands ( J:80323 )

increased pheochromocytoma incidence ( J:80323 )

neoplasm

increased tumor incidence ( J:80323 )

• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

increased pheochromocytoma incidence ( J:80323 )

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

cardiovascular system

cardiovascular system phenotype ( J:80323 )

N • normal cardiac development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:80323