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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Cbs
cystathionine beta-synthase
MGI:88285
102 phenotypes from 1 allele in 5 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Cbstm1Unc/Cbs+
B6.129P2-Cbstm1Unc/J
abnormal astrocyte morphology J:213631
abnormal blood-retina barrier function J:213631
abnormal Muller cell morphology J:213631
abnormal pericyte morphology J:213631
abnormal retina blood vessel morphology J:213631
abnormal retina blood vessel pattern J:213631
abnormal retina morphology J:213631
abnormal retina vasculature morphology J:213631
abnormal vascular endothelial cell physiology J:64885
abnormal vasodilation J:64885
abnormal venule morphology J:213631
abnormal vitreous body morphology J:213631
blood vessel congestion J:213631
increased astrocyte number J:213631
increased circulating homocysteine level J:64885, J:166184
increased vascular permeability J:213631
retina gliosis J:213631
retina ischemia J:213631
retina microaneurysm J:213631
retina neovascularization J:213631
Cbstm1Unc/Cbs+
involves: 129P2/OlaHsd
increased circulating homocysteine level J:112538
kyphosis J:112538
Cbstm1Unc/Cbs+
involves: 129P2/OlaHsd * C57BL/6J
abnormal circulating homocysteine level J:23321
abnormal hepatocyte morphology J:23321
normal integument phenotype J:105571
Cbstm1Unc/Cbstm1Unc
B6.129P2-Cbstm1Unc/J
abnormal circulating amino acid level J:166184
decreased circulating taurine level J:166184
increased circulating homocysteine level J:166184
Cbstm1Unc/Cbstm1Unc
involves: 129P2/OlaHsd
abnormal cartilage development J:112538
abnormal long bone hypertrophic chondrocyte zone J:112538
abnormal spine curvature J:112538
arachnodactyly J:112538
decreased body size J:112538
decreased length of long bones J:112538
delayed endochondral bone ossification J:112538
disorganized long bone epiphyseal plate J:112538
increased circulating homocysteine level J:112538
increased long bone epiphyseal plate size J:112538
kinked tail J:112538
kyphoscoliosis J:112538
short femur J:112538
short humerus J:112538
short tail J:112538
short tibia J:112538
short ulna J:112538
slow postnatal weight gain J:112538
small vertebrae J:112538
Cbstm1Unc/Cbstm1Unc
involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6
normal behavior/neurological phenotype J:166184
Cbstm1Unc/Cbstm1Unc
involves: 129P2/OlaHsd * C57BL/6
increased circulating homocysteine level J:150548
Cbstm1Unc/Cbstm1Unc
involves: 129P2/OlaHsd * C57BL/6J
abnormal amino acid level J:101303
abnormal coat appearance J:105571
abnormal decidualization J:190486
abnormal eye development J:23321
abnormal facial morphology J:23321
abnormal hair follicle morphology J:105571
abnormal hair growth J:105571
abnormal heart development J:23321
abnormal hepatocyte morphology J:23321
abnormal interleukin level J:101303
abnormal keratinocyte differentiation J:105571
abnormal limb morphology J:23321
abnormal lung development J:23321
abnormal maternal decidual layer morphology J:114850, J:190486
abnormal ovarian follicle number J:114850
abnormal placenta junctional zone morphology J:114850
abnormal pregnancy J:114850, J:190486
abnormal tail morphology J:23321
abnormal tumor necrosis factor level J:101303
abnormal uterine environment J:114850
abnormal uterus weight J:114850
absent uterine NK cells J:190486
decreased body size J:23321, J:105571
decreased body weight J:23321, J:105571
decreased litter size J:114850
decreased placenta weight J:114850, J:190486
decreased uterine NK cell number J:190486
delayed eyelid opening J:23321
delayed kidney development J:23321
enlarged liver J:23321
enlarged sebaceous gland J:105571
enlarged spinous cells J:105571
extramedullary hematopoiesis J:23321
female infertility J:23321, J:114850
hemosiderosis J:23321
hepatic steatosis J:101303
hyperkeratosis J:105571
increased alpha-fetoprotein level J:190486
increased circulating homocysteine level J:23321, J:105571, J:190486
increased circulating progesterone level J:114850
increased hair follicle number J:105571
increased hepatocyte apoptosis J:101303
increased placental labyrinth size J:114850
liver fibrosis J:101303
liver inflammation J:101303
microphthalmia J:23321
microvesicular hepatic steatosis J:23321
oxidative stress J:101303
pale liver J:23321
pointed snout J:105571
postnatal growth retardation J:23321, J:105571
postnatal lethality, incomplete penetrance J:23321
premature death J:23321, J:101303, J:105571
prolonged metestrus J:114850
short diestrus J:114850
short estrous cycle J:114850
short estrus J:114850
thin dermal layer J:105571
thin hypodermis J:105571
wrinkled skin J:105571

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