Symbol
Name
ID

Elp1
elongator complex protein 1
MGI:1914544

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Cerebellar hemorrhage

Cerebellar calcifications

Abnormal cranial nerve morphology

Hydrocephalus

Cerebellar cyst

Spinal cord tumor

Medulloblastoma

Cerebellar medulloblastoma

Neuroblastoma

Ataxia

Cerebellar ataxia associated with quadrupedal gait

Dysmetria

Progressive cerebellar ataxia

Intention tremor

Increased intracranial pressure

Irritability

Lethargy

Cognitive impairment

Abnormal brain FDG positron emission tomography

Headache

Global developmental delay

Disease(s) Associated with ELP1

medulloblastoma

Mouse Phenotypes

environmentally induced seizures

audiogenic seizures

increased neuron apoptosis

abnormal neuron differentiation

absent lamina terminalis

incomplete rostral neuropore closure

abnormal muscle spindle morphology

abnormal sympathetic ganglion morphology

abnormal stellate ganglion morphology

abnormal superior cervical ganglion morphology

abnormal brain development

abnormal forebrain development

abnormal telencephalon development

abnormal innervation pattern to muscle

abnormal sensory neuron innervation pattern

abnormal optic nerve innervation

neurogenic bladder

decreased neuron number

decreased sensory neuron number

increased neuron number

abnormal optic disk morphology

optic neuropathy

optic nerve atrophy

abnormal sensory ganglion morphology

abnormal dorsal root ganglion morphology

abnormal lumbar dorsal root ganglion morphology

abnormal nervous system physiology

abnormal autonomic nervous system physiology

Availability

Mouse Genotype

Elp1^{Gt(BGB184)Byg}/Elp1^{Gt(BGB184)Byg}

Elp1^tm1.1Id/Elp1^tm1.1Id

Elp1^tm1Id/Elp1^tm1Id

Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi}
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Elp1^tm1Id/Elp1^tm1Id
Tg(Hsp70-1-cre)6Arge/0 (conditional)

Elp1^tm1Id/Elp1^tm1.1Id
Tg(Hsp70-1-cre)6Arge/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)
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