mmachc Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (147)

Interactants (2)

XB-GENEPAGE-963486

Gene Symbol: mmachc Gene Name: metabolism of cobalamin associated C

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: mmachc assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (51 sources): Abnormality of extrapyramidal motor function, Anorexia, Cerebral cortical atrophy, Confusion, Cystathioninemia, Cystathioninuria, Decreased circulating adenosylcobalamin concentration, Decreased circulating methylcobalamin concentration, Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Delirium, Dementia, Failure to thrive, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hematuria, Hemolytic-uremic syndrome, High forehead, Homocystinuria, Hydrocephalus, Hyperhomocystinemia, Hypomethioninemia, Hypotonia, Intellectual disability, Lethargy, Long face, Low-set ears, Macrotia, Megaloblastic anemia, Megaloblastic bone marrow, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Nephropathy, Neutropenia, Nystagmus, Pallor, Pigmentary retinopathy, Proteinuria, Reduced visual acuity, Renal insufficiency, Retinopathy, Seizure, Smooth philtrum, Thrombocytopenia, Thromboembolism, Tremor, Visual impairment [+]
Mouse (28 sources): abnormal blastocyst formation, abnormal blood urea nitrogen level, abnormal craniofacial morphology, abnormal embryo size, abnormal embryo turning, abnormal epididymis morphology, abnormal limb morphology, abnormal palatal shelf fusion at midline, craniofacial phenotype, decreased body size, decreased embryo size, decreased fetal size, decreased locomotor activity, decreased trophectoderm cell proliferation, embryonic lethality before implantation, complete penetrance, enlarged lymph nodes, failure of blastocyst to hatch from the zona pellucida, impaired embryo implantation, increased circulating homocysteine level, lethality throughout fetal growth and development, complete penetrance, nervous system phenotype, no abnormal phenotype detected, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reproductive system phenotype, small kidney, transmission ratio distortion, vision/eye phenotype [+]
View all ortholog results at Monarch