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Symbol Name ID |
Nf1
neurofibromin 1 MGI:97306 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Carcinoid tumor |
Pheochromocytoma |
Neurofibroma |
Spinal neurofibroma |
Symmetric spinal nerve root neurofibromas |
Plexiform neurofibroma |
Abnormality of the nervous system |
Astrocytoma |
Optic nerve glioma |
Aqueductal stenosis |
Hydrocephalus |
Meningioma |
Spina bifida |
Neuroblastoma |
Ataxia |
Paraparesis |
EEG abnormality |
Hypsarrhythmia |
Abnormal nonverbal communicative behavior |
Abnormality of speech or vocalization |
Delayed speech and language development |
Lack of spontaneous play |
Impaired ability to form peer relationships |
Autistic behavior |
Autism |
Attention deficit hyperactivity disorder |
Inflexible adherence to routines |
Motor stereotypy |
Restrictive behavior |
Memory impairment |
Intellectual disability |
Intellectual disability, mild |
Headache |
Global developmental delay |
Moderate global developmental delay |
Specific learning disability |
Seizure |
Paresthesia |
| Disease(s) Associated with NF1 | |||||||||||||||||||||||||||||||||||||||
| autistic disorder | |||||||||||||||||||||||||||||||||||||||
| neurofibromatosis 1 | |||||||||||||||||||||||||||||||||||||||
| neurofibromatosis-Noonan syndrome | |||||||||||||||||||||||||||||||||||||||
| spinal neurofibromatosis | |||||||||||||||||||||||||||||||||||||||
| Watson syndrome |
| Mouse Phenotypes | nervous system phenotype |
abnormal neuron proliferation |
abnormal neuronal precursor proliferation |
abnormal neural crest cell morphology |
abnormal adrenergic chromaffin cell morphology |
abnormal pituitary gland morphology |
small adenohypophysis |
abnormal pituitary gland development |
small pituitary gland |
abnormal pituitary gland physiology |
abnormal microglial cell morphology |
increased neurofibroma incidence |
increased neurofibrosarcoma incidence |
increased ganglioneuroma incidence |
increased gangliosarcoma incidence |
increased glioma incidence |
abnormal sympathetic ganglion morphology |
paravertebral ganglia hyperplasia |
prevertebral ganglia hyperplasia |
abnormal brain development |
decreased forebrain size |
abnormal hippocampus morphology |
abnormal cerebral cortex morphology |
abnormal secondary somatosensory cortex morphology |
thin cerebral cortex |
abnormal CNS glial cell morphology |
abnormal astrocyte morphology |
astrocytosis |
increased oligodendrocyte number |
exencephaly |
abnormal dendrite morphology |
retina ganglion cell degeneration |
abnormal somatic nervous system morphology |
abnormal optic nerve morphology |
abnormal optic chiasm morphology |
increased optic chiasm size |
abnormal somatic sensory system morphology |
abnormal spinal nerve morphology |
axon degeneration |
abnormal nervous system physiology |
abnormal astrocyte physiology |
abnormal hypothalamus physiology |
abnormal myelination |
hypermyelination |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Cbr/Nf1tm1Cbr | * | ||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Fcr/Nf1tm1Fcr | |||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Tyj/Nf1tm1Tyj | |||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Tyj/Nf1+ | |||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Tyj/Nf1tm2Tyj | |||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1c(KOMP)Wtsi/Nf1tm1c(KOMP)Wtsi Tg(Dhh-cre)1Mejr/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Par Tg(Syn1-cre)671Jxm/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Par Tg(Mpz-cre)94Imeg/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Par Tg(Pax3-cre)1Joe/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Par H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Nf1tm1Par/Nf1tm1Par Tg(Fabp7-cre,-lacZ)3Gtm/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Par/Nf1tm1Par (conditional) | |||||||||||||||||||||||||||||||||||||||||||||
| Nf1tm1Par/Nf1tm1Tyj H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Nf1tm1.1Kest/Nf1tm1c(KOMP)Wtsi Tg(Dhh-cre)1Mejr/0 (conditional) |
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| Nf1tm1Fcr/Nf1+ Tg(GFAP-cre)#Gtm/0 (conditional) |
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| Nf1tm1Fcr/Nf1tm1Par Pax3tm1(cre)Joe/Pax3+ (conditional) |
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| Nf1tm1Par/Nf1+ Tg(Fabp7-cre,-lacZ)3Gtm/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Fcr Tg(GFAP-cre)#Gtm/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Tyj Tg(Postn-cre)1Sjc/0 (conditional) |
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| Nf1tm1Par/Nf1tm1Tyj Tg(Mpz-cre)1Brn/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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