lrp2 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-486051

Gene Symbol: lrp2 Gene Name: LDL receptor related protein 2

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal apical constriction (7 sources), abnormal incomplete closing of the neural fold (7 sources), abnormal neural fold morphology (6 sources), abnormal cell morphology (3 sources), increased size of the floor plate (2 sources), abnormal development of optic vesicle (1 source), abnormal establishment of planar polarity (1 source), abnormal forebrain morphology (1 source), abnormal neural plate morphology (1 source), abnormal neural tube morphology (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal apical constriction (7 sources), abnormal incomplete closing of the neural fold (7 sources), abnormal neural fold morphology (6 sources), abnormal cell morphology (3 sources), increased size of the floor plate (2 sources), abnormal development of optic vesicle (1 source), abnormal establishment of planar polarity (1 source), abnormal forebrain morphology (1 source), abnormal neural plate morphology (1 source), abnormal neural tube morphology (1 source)

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.
Manual annotations: lrp2 manipulated (2 sources), lrp2 assayed (1 source)
Computed annotations: lrp2 assayed (2 sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + lrp2 MO (6 sources), Xla Wt + lrp2 MO (3 sources), Xla Wt + lrp2 CRISPR (2 sources), Xla Wt + lrp2 MO (2 sources), Xla Wt + gipc1 MO + lrp2 MO (1 source), Xla Wt + lrp2 CRISPR (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (40 sources): Abnormality of the uterus, Aplasia/Hypoplasia of the corpus callosum, Bicornuate uterus, Broad forehead, Broad nasal tip, Cataract, Congenital diaphragmatic hernia, Depressed nasal bridge, Diaphragmatic eventration, Downslanted palpebral fissures, Global developmental delay, High myopia, Hypertelorism, Hypoplasia of the iris, Infra-orbital crease, Intellectual disability, Intestinal malrotation, Iris coloboma, Low-molecular-weight proteinuria, Low-set ears, Macrocephaly, Malar flattening, Midface retrusion, Myopia, Non-acidotic proximal tubulopathy, Omphalocele, Partial agenesis of the corpus callosum, Posteriorly rotated ears, Progressive visual loss, Proptosis, Proteinuria, Retinal detachment, Retinal dystrophy, Seizure, Sensorineural hearing impairment, Short nose, Umbilical hernia, Ventricular septal defect, Wide anterior fontanel, Widow's peak [+]
Mouse (60 sources): abnormal bone mineralization, abnormal bone remodeling, abnormal cerebellum fissure morphology, abnormal cerebral cortex morphology, abnormal choroid plexus morphology, abnormal circulating mineral level, abnormal dendrite morphology, abnormal diencephalon morphology, abnormal embryonic neuroepithelium morphology, abnormal forebrain development, abnormal hearing physiology, abnormal myocardium compact layer morphology, abnormal proximal convoluted tubule morphology, abnormal renal reabsorption, abnormal response/metabolism to endogenous compounds, abnormal retina bipolar cell morphology, abnormal retina pigment epithelium morphology, abnormal sclera morphology, abnormal selenium level, abnormal strial marginal cell morphology, abnormal telencephalon morphology, abnormal testis development, abnormal viscerocranium morphology, abnormal vitamin D level, absent olfactory bulb, behavior/neurological phenotype, choroid plexus hyperplasia, decreased bone mineral content, decreased cell proliferation, decreased embryo size, decreased glutathione peroxidase activity, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, decreased total retina thickness, delayed neural tube closure, dilated uterus, growth/size/body region phenotype, homeostasis/metabolism phenotype, increased apoptosis, increased circulating dihydrotestosterone level, increased circulating parathyroid hormone level, increased or absent threshold for auditory brainstem response, increased retina apoptosis, increased susceptibility to age-related hearing loss, increased urine microglobulin level, increased urine selenium level, kinked tail, nervous system phenotype, overexpanded pulmonary alveoli, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, persistent truncus arteriosus type i, renal/urinary system phenotype, round forehead, small embryonic telencephalon, small olfactory bulb, thin retina inner plexiform layer, thin retina outer nuclear layer, vaginal septum, vision/eye phenotype [+]
View all ortholog results at Monarch