Phenotypes Associated with This Genotype

Genotype
MGI:2176767

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Par; Tg(Syn1-cre)671Jxm/0
• 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 weight ( J:68558 )

• body weight and size are about 50% of normal

postnatal growth retardation ( J:68558 )

• 3-4 days after birth, mice begin to exhibit growth retardation that is sustained into adulthood

nervous system

decreased forebrain size ( J:68558 )

• forebrain, but not the rest of the brain, is reduced in size, however mice exhibit normal neuronal development

abnormal cerebral cortex morphology ( J:68558 )

• increase in cell density in the cerebral cortex, often resulting in less apparent lamination

thin cerebral cortex ( J:68558 )

• about 20% reduction in coritcal thickness

astrocytosis ( J:68558 )

• mice display astrogliosis in various brain regions, however do not develop neuronal degeneration or microgliosis

behavior/neurological

abnormal learning/memory/conditioning ( J:68558 )

• mice display severe learning disability

neoplasm

neoplasm ( J:68558 )

N • no evidence of tumors; optic gliomas, astrocytomas, or neurofibroma are not observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:68558