bbs1 Phenotypes

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Phenotypes

Gene Literature (0)

Nucleotides (98)

Interactants (42)

XB-GENEPAGE-979087

Gene Symbol: bbs1 Gene Name: Bardet-Biedl syndrome 1

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: bbs1 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (63 sources): Abnormal electroretinogram, Abnormality of the kidney, Abnormality of the ovary, Aganglionic megacolon, Allergy, Asthma, Astigmatism, Ataxia, Biliary tract abnormality, Brachydactyly, Broad foot, Cataract, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, Downslanted palpebral fissures, Finger syndactyly, Foot polydactyly, Gait imbalance, Generalized hirsutism, Glaucoma, Global developmental delay, Hearing impairment, Hepatic fibrosis, High palate, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Low-set, posteriorly rotated ears, Macrocephaly, Medial flaring of the eyebrow, Micropenis, Multicystic kidney dysplasia, Myopia, Nephrogenic diabetes insipidus, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Poor coordination, Postaxial hand polydactyly, Prominent nasal bridge, Radial deviation of finger, Retinal degeneration, Retinal dystrophy, Rod-cone dystrophy, Short foot, Short neck, Short stature, Skeletal muscle atrophy, Specific learning disability, Strabismus, Syndactyly, Vaginal atresia [+]
Mouse (41 sources): abnormal cone electrophysiology, abnormal ependyma motile cilium morphology, abnormal eye electrophysiology, abnormal fat pad morphology, abnormal neuronal precursor proliferation, abnormal olfactory epithelium cilium morphology, abnormal olfactory sensory neuron morphology, abnormal orientation of outer hair cell stereociliary bundles, abnormal outer hair cell stereociliary bundle morphology, abnormal photoreceptor outer segment morphology, abnormal placenta morphology, abnormal placenta vasculature, abnormal retina photoreceptor morphology, abnormal rod electrophysiology, absent sperm flagellum, decreased aggression towards mice, decreased birth body size, decreased dendritic spine density, decreased locomotor activity, decreased neuronal precursor proliferation, decreased striatum size, disorganized photoreceptor inner segment, disorganized photoreceptor outer segment, embryonic lethality during organogenesis, incomplete penetrance, enlarged lateral ventricles, enlarged third ventricle, impaired olfaction, increased brown adipose tissue amount, increased food intake, increased neuron apoptosis, increased total body fat amount, limbs/digits/tail phenotype, nervous system phenotype, photoreceptor inner segment degeneration, preweaning lethality, complete penetrance, renal/urinary system phenotype, retina outer nuclear layer degeneration, shortened QRS complex duration, small heart, small hippocampus, thin cerebral cortex [+]
View all ortholog results at Monarch