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Symbol
Name
ID
Mthfr
methylenetetrahydrofolate reductase
MGI:106639
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Arachnodactyly
Genu valgum
Sacral dimple
Pectus carinatum
Pectus excavatum
Absence of the sacrum
Asymmetry of spinal facet joints
Biconcave vertebral bodies
Kyphosis
Kyphoscoliosis
Scoliosis
Osteoporosis
Generalized osteoporosis
Limitation of joint mobility
Joint stiffness
Recurrent fractures
Disease(s) Associated with MTHFR
homocystinuria
neural tube defect

Mouse Phenotypes
kyphosis
Availability Mouse Genotype
Mthfrtm1Rzn/Mthfrtm1Rzn

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
10/08/2019
MGI 6.14
The Jackson Laboratory