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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Nf1
neurofibromin 1
MGI:97306
189 phenotypes from 12 alleles in 29 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Nf1Mhdadsk9/Nf1+
C3HeB/FeJ-Nf1Mhdadsk9/Ieg 		abnormal tongue morphology J:81301
increased ear pigmentation J:81301
increased foot pad pigmentation J:81301
increased tail pigmentation J:81301
Nf1Mhdadsk9/Nf1+
involves: C3HeB/FeJ * C57BL/6 		abnormal seminiferous tubule epithelium morphology J:269534
abnormal Sertoli cell barrier morphology J:269534
abnormal spermatid morphology J:269534
abnormal spermatogenesis J:269534
abnormal spermiation J:269534
decreased Leydig cell number J:269534
decreased litter size J:269534
enlarged sperm head J:269534
enlarged testis J:269534
increased sperm number J:269534
reduced male fertility J:269534
seminiferous tubule degeneration J:269534
Nf1Mhdadsk9/Nf1Mhdadsk9
involves: C3HeB/FeJ * C57BL/6J 		prenatal lethality, complete penetrance J:81301
Nf1tm1.1Kest/Nf1tm1.1Kest
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6NTac 		embryonic lethality during organogenesis, complete penetrance J:234172
pericardial effusion J:234172
Nf1tm1.1Kest/Nf1tm1c(KOMP)Wtsi
Tg(Dhh-cre)1Mejr/0
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * C57BL/6NTac * FVB/N 		abnormal somatic nervous system morphology J:234172
abnormal spinal nerve morphology J:234172
dehydration J:234172
dermatitis J:234172
hindlimb paralysis J:234172
increased neurofibroma incidence J:234172
lethargy J:234172
weight loss J:234172
Nf1tm1a(KOMP)Wtsi/Nf1+
B6Dnk;B6Brd;B6N-Tyrc-Brd Nf1tm1a(KOMP)Wtsi/Wtsi 		abnormal hair cycle anagen phase J:232539
Nf1tm1a(KOMP)Wtsi/Nf1+
B6JTyr;B6N-Nf1tm1a(KOMP)Wtsi/Wtsi 		decreased circulating alanine transaminase level J:175295
decreased circulating aspartate transaminase level J:175295
decreased lactate dehydrogenase level J:175295
increased body weight J:165965
Nf1tm1a(KOMP)Wtsi/Nf1tm1a(KOMP)Wtsi
B6JTyr;B6N-Nf1tm1a(KOMP)Wtsi/Wtsi 		preweaning lethality, complete penetrance J:211773
Nf1tm1c(KOMP)Wtsi/Nf1tm1c(KOMP)Wtsi
Tg(Dhh-cre)1Mejr/0
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * FVB/N 		abnormal somatic nervous system morphology J:234172
abnormal spinal nerve morphology J:234172
dehydration J:234172
dermatitis J:234172
hindlimb paralysis J:234172
increased neurofibroma incidence J:234172
lethargy J:234172
weight loss J:234172
Nf1tm1Cbr/Nf1+
involves: 129S1/Sv * C57BL/6 		normal neoplasm J:68489
Nf1tm1Cbr/Nf1tm1Cbr
involves: 129S1/Sv * C57BL/6 		abnormal discrimination learning J:68489
abnormal spatial learning J:68489
impaired coordination J:68489
normal neoplasm J:68489
normal nervous system phenotype J:68489
Nf1tm1d(KOMP)Wtsi/Nf1tm1d(KOMP)Wtsi
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * FVB/N 		embryonic lethality during organogenesis, complete penetrance J:234172
Nf1tm1d(KOMP)Wtsi/Nf1tm2.1Kest
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * FVB/N 		no abnormal phenotype detected J:234172
Nf1tm1Fcr/Nf1+
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA 		abnormal neuron proliferation J:176586
abnormal optic nerve morphology J:176586
increased glioma incidence J:176586
increased optic chiasm size J:176586
Nf1tm1Fcr/Nf1tm1.1Par
involves: 129S/SvEv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		decreased eye pigmentation J:68558
edema J:68558
embryonic lethality during organogenesis, complete penetrance J:68558
enlarged heart J:68558
hemorrhage J:68558
microphthalmia J:68558
Nf1tm1Fcr/Nf1tm1Fcr
either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J) 		abnormal atrioventricular cushion morphology J:18048
abnormal fetal atrioventricular canal morphology J:18048
abnormal heart development J:18048
abnormal heart valve morphology J:18048
abnormal lymphatic vessel morphology J:18048
abnormal metanephros morphology J:18048
abnormal mitral valve cusp morphology J:18048
abnormal muscle morphology J:18048
abnormal vein morphology J:18048
blood vessel congestion J:18048
decreased renal glomerulus number J:18048
delayed hepatic development J:18048
delayed kidney development J:18048
delayed muscle development J:18048
disorganized myocardium J:18048
edema J:18048
enlarged chest J:18048
exencephaly J:18048
focal hepatic necrosis J:18048
globular heart J:18048
heart hypoplasia J:18048
increased atrioventricular cushion size J:18048
lethality throughout fetal growth and development, complete penetrance J:18048
liver hemorrhage J:18048
liver hypoplasia J:18048
megacephaly J:18048
microphthalmia J:18048
pale liver J:18048
paravertebral ganglia hyperplasia J:18048
pericardial effusion J:18048
persistent truncus arteriosus J:18048
pleural effusion J:18048
prevertebral ganglia hyperplasia J:18048
skeletal muscle hypoplasia J:18048
ventricular septal defect J:18048
Nf1tm1Fcr/Nf1tm1Fcr
involves: 129S/SvEv 		abnormal enzyme/coenzyme activity J:114455
embryonic lethality during organogenesis, complete penetrance J:114455
Nf1tm1Fcr/Nf1tm1Par
Pax3tm1(cre)Joe/Pax3+
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ 		abnormal somatic sensory system morphology J:114455
adrenal medulla hyperplasia J:114455
neonatal lethality, complete penetrance J:114455
Nf1tm1Fcr/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		abnormal spleen morphology J:114455
absent spleen germinal center J:114455
enlarged spleen J:114455
spleen fibrosis J:114455
Nf1tm1Par/Nf1+
Tg(Fabp7-cre,-lacZ)3Gtm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal astrocyte morphology J:139866
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal astrocyte morphology J:165209
abnormal astrocyte physiology J:165209
abnormal microglial cell morphology J:165209
abnormal myelination J:165209
abnormal optic chiasm morphology J:165209
abnormal optic nerve morphology J:165209
axon degeneration J:165209
hypermyelination J:165209
increased glioma incidence J:165209
retina ganglion cell degeneration J:165209
Nf1tm1Par/Nf1tm1Par
involves: 129S1/Sv * 129X1/SvJ 		abnormal astrocyte physiology J:176586
Nf1tm1Par/Nf1tm1Par
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal adrenal cortex morphology J:80323
abnormal adrenal gland morphology J:80323
abnormal adrenergic chromaffin cell morphology J:80323
abnormal sympathetic ganglion morphology J:80323
normal cardiovascular system phenotype J:80323
decreased body size J:80323
enlarged adrenal glands J:80323
increased ganglioneuroma incidence J:80323
increased gangliosarcoma incidence J:80323
increased pheochromocytoma incidence J:80323
increased tumor incidence J:80323
respiratory failure J:80323
thin adrenal cortex J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre,-lacZ)3Gtm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal astrocyte morphology J:139866
abnormal behavior J:139866
abnormal brain development J:139866
abnormal CNS glial cell morphology J:139866
abnormal dendrite morphology J:139866
abnormal hippocampus morphology J:139866
abnormal hormone level J:138868
abnormal hypothalamus physiology J:138868
abnormal nervous system physiology J:139866
abnormal neuronal precursor proliferation J:139866
abnormal pituitary gland development J:138868
abnormal pituitary gland morphology J:138868
abnormal pituitary gland physiology J:138868
abnormal secondary somatosensory cortex morphology J:139866
abnormal voluntary movement J:139866
decreased body weight J:138868, J:139866
decreased circulating growth hormone level J:138868
increased oligodendrocyte number J:139866
normal nervous system phenotype J:139866
postnatal growth retardation J:138868, J:139866
postnatal lethality, incomplete penetrance J:139866
premature death J:139866
small adenohypophysis J:138868
small pituitary gland J:138868
Nf1tm1Par/Nf1tm1Par
Tg(Gfap-cre)77.6Mvs/0
involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6NHsd 		normal neoplasm J:154673
Nf1tm1Par/Nf1tm1Par
Tg(Mpz-cre)94Imeg/0
involves: 129S1/Sv * 129X1/SvJ 		abnormal adrenal cortex morphology J:80323
abnormal adrenal gland morphology J:80323
abnormal adrenergic chromaffin cell morphology J:80323
abnormal sympathetic ganglion morphology J:80323
normal cardiovascular system phenotype J:80323
decreased body size J:80323
enlarged adrenal glands J:80323
increased ganglioneuroma incidence J:80323
increased gangliosarcoma incidence J:80323
increased pheochromocytoma incidence J:80323
increased tumor incidence J:80323
respiratory failure J:80323
thin adrenal cortex J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal bone marrow cell morphology/development J:90973
abnormal common myeloid progenitor cell morphology J:90973
abnormal definitive hematopoiesis J:90973
abnormal gait J:90973
abnormal hematopoietic cell number J:90973
abnormal myeloid leukocyte morphology J:90973
abnormal myelopoiesis J:90973
abnormal spleen morphology J:90973
disheveled coat J:90973
enlarged spleen J:90973
hunched posture J:90973
increased granulocyte number J:90973
increased leukocyte cell number J:90973
increased lymphocyte cell number J:90973
increased monocyte cell number J:90973
increased neutrophil cell number J:90973
premature death J:90973
Nf1tm1Par/Nf1tm1Par
Tg(Pax3-cre)1Joe/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		abnormal adrenal cortex morphology J:80323
abnormal adrenal gland morphology J:80323
abnormal adrenergic chromaffin cell morphology J:80323
abnormal sympathetic ganglion morphology J:80323
normal cardiovascular system phenotype J:80323
decreased body size J:80323
enlarged adrenal glands J:80323
increased ganglioneuroma incidence J:80323
increased gangliosarcoma incidence J:80323
increased pheochromocytoma incidence J:80323
increased tumor incidence J:80323
respiratory failure J:80323
thin adrenal cortex J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * SJL/J 		abnormal bone healing J:193350
abnormal cartilage morphology J:193350
abnormal endochondral bone ossification J:193350
abnormal osteoblast cell number J:193350
abnormal osteoid morphology J:193350
decreased bone mineral density J:193350
fragile skeleton J:193350
increased compact bone volume J:193350
increased osteoclast cell number J:193350
increased osteoid thickness J:193350
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J 		abnormal muscle development J:173779
abnormal muscle fiber morphology J:173779
abnormal muscle morphology J:173779
abnormal muscle physiology J:173779
abnormal myoblast differentiation J:173779
abnormal myogenesis J:173779
decreased body weight J:173779
decreased muscle weight J:173779
decreased skeletal muscle fiber number J:173779
decreased skeletal muscle mass J:173779
increased myoblast proliferation J:173779
short limbs J:173779
skeletal muscle fibrosis J:173779
Nf1tm1Par/Nf1tm1Par
Tg(Syn1-cre)671Jxm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal cerebral cortex morphology J:68558
abnormal learning/memory/conditioning J:68558
astrocytosis J:68558
decreased body weight J:68558
decreased forebrain size J:68558
normal neoplasm J:68558
postnatal growth retardation J:68558
thin cerebral cortex J:68558
Nf1tm1Par/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		double outlet right ventricle J:80323
increased atrioventricular cushion size J:80323
pericardial effusion J:80323
thin myocardium J:80323
thin myocardium compact layer J:80323
ventricular septal defect J:80323
Nf1tm1Par/Nf1tm1Tyj
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129/Sv * C57BL/6 * CBA 		abnormal neural crest cell morphology J:131914
Nf1tm1Par/Nf1tm1Tyj
Tg(Mpz-cre)1Brn/0
involves: 129/Sv * FVB/N 		increased neurofibroma incidence J:131914
normal nervous system phenotype J:131914
Nf1tm1Par/Nf1tm1Tyj
Tg(Postn-cre)1Sjc/0
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal neural crest cell morphology J:131914
normal neoplasm J:131914
premature death J:131914
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas 		abnormal mast cell physiology J:142439
increased mast cell degranulation J:142439
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * C57BL/6 		increased adrenal gland tumor incidence J:18542
increased fibrosarcoma incidence J:18542
increased hepatoma incidence J:18542
increased leukemia incidence J:18542
increased lung adenocarcinoma incidence J:18542
increased lymphoma incidence J:18542
increased neurofibrosarcoma incidence J:18542
increased pheochromocytoma incidence J:18542
increased tumor incidence J:18542
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * C57BL/6J 		abnormal spatial learning J:38703
Nf1tm1Tyj/Nf1tm1Tyj
involves: 129S2/SvPas 		abnormal neural crest cell morphology J:131914
Nf1tm1Tyj/Nf1tm1Tyj
involves: 129S2/SvPas * C57BL/6 		abnormal myocardium layer morphology J:18542
distended pericardium J:18542
double outlet right ventricle J:18542
embryonic lethality during organogenesis, complete penetrance J:18542
hydrops fetalis J:18542
pallor J:18542
Nf1tm1Tyj/Nf1tm2Tyj
chimera involves: 129S2/SvPas 		abnormal muscle morphology J:58876
increased neurofibroma incidence J:58876
no abnormal phenotype detected J:58876
postnatal lethality, complete penetrance J:58876
Nf1tm2.1Kest/Nf1tm2.1Kest
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6NTac 		no abnormal phenotype detected J:234172
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory