Gene Summary

Name:
RAB6A GEF compex partner 1
Synonyms:
1110029E03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Rgp1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance Rgp1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal behavior Rgp1tm1.1(KOMP)Vlcg HET Early adult 1.34×10-06
abnormal spinal cord morphology Rgp1tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased thigmotaxis Rgp1tm1.1(KOMP)Vlcg HET Early adult 1.34×10-06
embryonic lethality prior to organogenesis Rgp1tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased circulating cholesterol level Rgp1tm1.1(KOMP)Vlcg HET   Early adult 1.17×10-05
decreased circulating calcium level Rgp1tm1.1(KOMP)Vlcg HET Early adult 1.08×10-20
decreased circulating glucose level Rgp1tm1.1(KOMP)Vlcg HET Early adult 5.88×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
N/A heterozygote 100% (1 of 1)
Skeleton N/A heterozygote 100% (1 of 1)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (1 of 1)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
Vibrissa N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
pericardium 1.82% (1 of 55)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

Adult LacZ

LacZ Images Section

46 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Rgp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rgp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depression, Hype... ORPHA:36913
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression, Diabetes mellitus OMIM:602475
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depression, Hype... ORPHA:94089
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Adamantinoma
Hypercalcemia ORPHA:55881
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia OMIM:240800
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia ORPHA:446
Cholera
Hyponatremia, Hypoglycemia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentra... ORPHA:173
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Irritability, Elevated circula... OMIM:618156
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Emotional lability, Hypocalcemia, Anxiety, Depression, Hyperphosphatemia ORPHA:428
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, In... ORPHA:26793
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depr... ORPHA:79444
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Celiac Disease, Susceptibility To, 1
Steatorrhea, Type I diabetes mellitus, Hypocalcemia, Anxiety, Depression OMIM:212750
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia ORPHA:2089
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Spinal cord compression, Irritability, Hy... ORPHA:79443
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... ORPHA:96180
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Uremic Pruritus
Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypermagnesemia, Depression ORPHA:94059
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... OMIM:615160
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... OMIM:231100
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Non-Functioning Paraganglioma
Panic attack, Hypercalcemia ORPHA:94080
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Primary hyperaldos... ORPHA:358
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Type I diabetes mellitus, Hypoalbuminem... ORPHA:37042
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Euphoria ORPHA:31826
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Depression, Hypophosphatemia OMIM:600740
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Velocardiofacial Syndrome
Mood swings, Aggressive behavior, Hypocalcemia OMIM:192430
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormality of the spinal cord ORPHA:494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Hypophosphatasia, Infantile
Hypercalcemia, Irritability, Elevated plasma pyrophosphate OMIM:241500
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Steatorrhea, Diabetes... ORPHA:699
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Alzheimer Disease, Familial, 1
Long-tract signs, Decreased circulating GABA concentration OMIM:104300
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Cartilage-Hair Hypoplasia
Spinal dysraphism, Hypocalcemia ORPHA:175
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Tangier Disease
Hypocholesterolemia, Syringomyelia, Hypertriglyceridemia ORPHA:31150
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia ORPHA:79324
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus, Decreased cir... ORPHA:199299
22Q11.2 Deletion Syndrome
Meningocele, Occipital myelomeningocele, Spina bifida, Hypocalcemia, Anxiety, Depression, Bipolar... ORPHA:567
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Sporadic Pheochromocytoma/Secreting Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:276621
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... OMIM:618838
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... ORPHA:95409
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubin... ORPHA:88673
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia OMIM:131100
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Self-mutilation ORPHA:476126
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... ORPHA:85138
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hereditary Pheochromocytoma-Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:29072
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Spinal cord compr... ORPHA:29073
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormality of the spinal cord ORPHA:99947
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus, Depression ORPHA:97280
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus ORPHA:249
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Aggressive behavior, Self-mutilation, Elevated 7-dehydrocholesterol OMIM:270400
Digeorge Syndrome
Hypocalcemia, Bipolar affective disorder OMIM:188400
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Vipoma
Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus, Hypokalemia ORPHA:97282
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyper... ORPHA:276152
Mastocytosis
Hypercalcemia ORPHA:98292
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus ORPHA:97283
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Low frustration tolerance, Hypocalcemia, Impulsivity OMIM:619503
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Solitary Bone Cyst
Abnormality of the spinal cord ORPHA:83468
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level, Increased circulating cortisol level ORPHA:913
Pheochromocytoma
Hypercalcemia OMIM:171300
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Diabetes mellitus, Hypocalcemia OMIM:243800
Charge Syndrome
Self-mutilation, Hypocalcemia OMIM:214800
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
X-Linked Cerebral Adrenoleukodystrophy
Abnormal circulating fatty-acid concentration, Abnormality of the spinal cord, Myelopathy, Decrea... ORPHA:139396
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Multiple Endocrine Neoplasia Type 2
Anxiety, Hypercalcemia ORPHA:653
Acute Disseminated Encephalomyelitis
Aggressive behavior, Irritability, Myelitis, Abnormality of the spinal cord ORPHA:83597
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Adrenomyeloneuropathy
Abnormal circulating fatty-acid concentration, Abnormality of the spinal cord, Dorsal column dege... ORPHA:139399
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Increased circulating cortisol level, Depression, Primary hypercortisolism ORPHA:652
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Williams Syndrome
Hypercalcemia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Elevated circ... ORPHA:904
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Williams-Beuren Syndrome
Anxiety, Glucose intolerance, Hypercalcemia, Diabetes mellitus OMIM:194050
Sotos Syndrome
Anxiety, Aggressive behavior, Hypercalcemia, Neonatal hypoglycemia ORPHA:821
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Amoebiasis Due To Free-Living Amoebae
Abnormality of the spinal cord, Irritability ORPHA:68
Sarcoidosis
Hypercalcemia ORPHA:797
Superficial Siderosis
Abnormality of the spinal cord, Atrophy of the spinal cord ORPHA:247245
Primary Sjögren Syndrome
Anxiety, Abnormality of the spinal cord, Depression ORPHA:289390
Limb Body Wall Complex
Abnormality of the spinal cord, Spina bifida, Myelomeningocele, Spina bifida occulta ORPHA:2369
Mosaic Trisomy 20
Abnormality of the spinal cord ORPHA:1724
Tetrasomy 9P
Abnormality of the spinal cord, Inappropriate behavior ORPHA:3310

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rgp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rgp1.

No publications found that use IMPC mice or data for Rgp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Rgp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Rgp1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Rgp1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rgp1tm450363(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter