bbs4 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 (77)

Interactants (44)

XB-GENEPAGE-952106

Gene Symbol: bbs4 Gene Name: Bardet-Biedl syndrome 4

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: bbs4 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (35 sources): Abnormal electroretinogram, Abnormality of the dentition, Abnormality of the kidney, Brachydactyly, Cryptorchidism, Downslanted palpebral fissures, External genital hypoplasia, Finger syndactyly, Generalized hirsutism, Hearing impairment, Hepatic fibrosis, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Nephrotic syndrome, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Prominent nasal bridge, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short neck, Short stature, Skeletal muscle atrophy, Syndactyly [+]
Mouse (53 sources): abnormal basal ganglion morphology, abnormal blood homeostasis, abnormal bone mineralization, abnormal circulating lipid level, abnormal circulating mineral level, abnormal cone electrophysiology, abnormal eye electrophysiology, abnormal fasting circulating glucose level, abnormal miniature excitatory postsynaptic currents, abnormal olfactory epithelium cilium morphology, abnormal olfactory sensory neuron morphology, abnormal orientation of outer hair cell stereociliary bundles, abnormal photoreceptor inner segment morphology, abnormal photoreceptor outer segment morphology, abnormal placing response, abnormal renal tubule epithelial cell primary cilium morphology, abnormal retina photoreceptor layer morphology, abnormal retina pigment epithelium morphology, abnormal retina vasculature morphology, absent sperm flagellum, decreased aggression, decreased aggression towards mice, decreased birth body size, decreased body size, decreased bone mineral content, decreased dendritic spine density, decreased dendritic spine length, decreased fasting circulating glucose level, decreased grip strength, decreased salivation, decreased thigmotaxis, embryonic lethality during organogenesis, incomplete penetrance, enhanced autophagy, enlarged lateral ventricles, enlarged third ventricle, hyporesponsive to tactile stimuli, impaired contextual conditioning behavior, impaired cued conditioning behavior, increased abdominal adipose tissue amount, increased anxiety-related response, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased circulating glucose level, increased circulating lactate dehydrogenase level, increased susceptibility to age related obesity, increased thigmotaxis, increased total body fat amount, perinatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, renal glomerulus cyst, small hippocampus, thin cerebral cortex [+]
View all ortholog results at Monarch