Symbol
Name
ID

Fmr1
fragile X messenger ribonucleoprotein 1
MGI:95564

Phenotype annotations related to nervous system

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Increased circulating gonadotropin level

Cerebral cortical atrophy

Diffuse cerebral atrophy

Cerebellar atrophy

Periventricular heterotopia

Dysdiadochokinesis

Dysmetria

Gait ataxia

Poor fine motor coordination

Bradykinesia

Parkinsonism

Action tremor

Intention tremor

Postural tremor

Resting tremor

Reduced eye contact

Abnormality of speech or vocalization

Delayed speech and language development

Dysarthria

Depression

Irritability

Anxiety

Autism

Obsessive-compulsive trait

Disinhibition

Hyperactivity

Attention deficit hyperactivity disorder

Recurrent hand flapping

Self-injurious behavior

Self-biting

Memory impairment

Mental deterioration

Dementia

Intellectual disability, moderate

Sleep abnormality

Abnormal head movements

Hyporeflexia

Impaired tandem gait

Delayed gross motor development

Peripheral neuropathy

Seizure

Impaired distal vibration sensation

Disease(s) Associated with FMR1

fragile X syndrome

fragile X-associated tremor/ataxia syndrome

primary ovarian insufficiency 1

Mouse Phenotypes

audiogenic seizures

convulsive seizures

tonic-clonic seizures

abnormal neuron differentiation

abnormal neuronal precursor proliferation

abnormal brain morphology

abnormal dentate gyrus morphology

abnormal hippocampal mossy fiber morphology

abnormal hippocampus pyramidal cell morphology

abnormal Purkinje cell morphology

decreased Purkinje cell number

abnormal dendrite morphology

abnormal dendritic spine morphology

increased dendritic spine density

abnormal retina rod cell outer segment morphology

abnormal postsynaptic density morphology

abnormal excitatory synapse morphology

abnormal synaptic vesicle number

neuronal intranuclear inclusions

abnormal nerve fiber response

impaired synaptic plasticity

abnormal CNS synaptic transmission

enhanced long-term potentiation

reduced long-term potentiation

abnormal miniature excitatory postsynaptic currents

increased miniature excitatory postsynaptic current amplitude

increased prepulse inhibition

abnormal long-term depression

Availability

Mouse Genotype

Fmr1^tm1.1Ics/Fmr1^tm1.1Ics

Fmr1^tm1Cgr/Fmr1^tm1Cgr

Fmr1^tm1.2Cidz/Y

Fmr1^tm1Cgr/Y

Fmr1^tm1Rbd/Y

Fmr1^tm1Usdn/Y

Fmr1^tm2Cgr/Y

Fmr1^tm1.1Cidz/Fmr1^tm1.1Cidz
Tg(Pcp2-cre)2Mpin/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 08/02/2024 MGI 6.24