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Symbol
Name
ID
Rtel1
regulator of telomere elongation helicase 1
MGI:2139369
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Cerebellar hypoplasia
Global developmental delay
Disease(s) Associated with RTEL1
autosomal recessive dyskeratosis congenita 5

Mouse Phenotypes
abnormal neural tube morphology
enlarged floor plate
abnormal neural crest cell morphology
incomplete rostral neuropore closure
Availability Mouse Genotype
Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Rtel1tm1Pml/Rtel1tm1Pml

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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory