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Symbol
Name
ID
Cbs
cystathionine beta-synthase
MGI:88285
Phenotype annotations related to integument
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Subcutaneous hemorrhage
Sparse scalp hair
Cutis marmorata
Urticaria
Brittle hair
Hypopigmentation of the skin
Disease(s) Associated with CBS
homocystinuria

Mouse Phenotypes
integument phenotype
abnormal keratinocyte differentiation
enlarged sebaceous gland
abnormal coat appearance
abnormal hair growth
thin hypodermis
abnormal hair follicle morphology
increased hair follicle number
thin dermal layer
hyperkeratosis
enlarged spinous cells
wrinkled skin
Availability Mouse Genotype
Cbstm1Unc/Cbstm1Unc
Cbstm1Unc/Cbs+ *

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
04/23/2024
MGI 6.23
The Jackson Laboratory