Gene: 2700097O09Rik MGI:1919908

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Gene Summary

Name:
RIKEN cDNA 2700097O09 gene
Synonyms:
N/A

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
increased circulating calcium level 2700097O09Riktm1.1(KOMP)Vlcg HOM   Early adult 9.94×10-05
abnormal liver morphology 2700097O09Riktm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating alkaline phosphatase level 2700097O09Riktm1.1(KOMP)Vlcg HOM Early adult 4.00×10-05
abnormal epididymis morphology 2700097O09Riktm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance 2700097O09Riktm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged epididymis 2700097O09Riktm1.1(KOMP)Vlcg HOM Early adult 0.00
limb grasping 2700097O09Riktm1.1(KOMP)Vlcg HOM Early adult 5.10×10-05

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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)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 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)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  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)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

188 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by 2700097O09Rik 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 2700097O09Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Hypercalcemia OMIM:240150
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Abnormal vagina morphology, Hepatomegaly ORPHA:2123
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Cryptorchidism OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Rhabdoid Tumor
Hypercalcemia, Neoplasm of the liver ORPHA:69077
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Oculoskeletodental Syndrome
Hypercalcemia, Hepatomegaly, Splenomegaly, Hypocalcemia, Cryptorchidism OMIM:618440
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Non-Functioning Paraganglioma
Tremor, Hypercalcemia ORPHA:94080
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Pancreatitis OMIM:145980
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Hypophosphatasia
Hypercalcemia ORPHA:436
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Pancreatitis OMIM:145981
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypophosphatasia, Infantile
Hypercalcemia, Stillbirth, Elevated plasma pyrophosphate OMIM:241500
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hepatomegaly, Calcinosis, Hypophosphatemia, Splenomegaly OMIM:239200
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Hepatic necrosis, Hyperbilirub... ORPHA:88673
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Pancreatitis OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Pancreatitis, Infantile hypercalcemia, Renal hypophosphatem... ORPHA:405
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hepatitis, Hyperuricemia, Premature ovarian insufficiency ORPHA:199299
Thymic Neuroendocrine Tumor
Hypercalcemia, Pancreatic islet cell adenoma ORPHA:97289
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Micropenis, Hypocalcemia, Cryptorchidism, Hyperphosphatemia OMIM:241410
Mastocytosis
Hypercalcemia, Hepatomegaly, Splenomegaly ORPHA:98292
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Uterine leiomyoma, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Infa... ORPHA:99880
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia ORPHA:276621
Parathyroid Carcinoma
Hypercalcemia, Uterine leiomyoma, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Infa... ORPHA:143
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatomegaly, Splenomegaly, Abnormality of the uterus, Vaginal atresia, Hepatosp... ORPHA:1655
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Abnormal spleen physiology, H... ORPHA:398063
Ppoma
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Extrahepatic cholestasis, ... ORPHA:97278
Vipoma
Hypercalcemia, Hepatomegaly, Hypokalemia, Neoplasm of the pancreas, Neoplasm of the liver, Extrah... ORPHA:97282
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Hypercalcemia ORPHA:476126
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Primary testicular failure, Premature o... ORPHA:85138
Somatostatinoma
Hypercalcemia, Hepatomegaly, Gallbladder dysfunction, Neoplasm of the pancreas, Extrahepatic chol... ORPHA:97283
Fibrous Dysplasia Of Bone
Hypercalcemia, Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Testicular neoplasm ORPHA:249
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hepatomegaly, Splenomegaly, Micropenis, Pancreatic lymphangiectasis, Hepatic fai... OMIM:235255
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Cryptorchidism OMIM:618183
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia ORPHA:96168
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Grfoma
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Extrahepatic cholestasis, ... ORPHA:97261
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Stillbirth, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Hypocalcemia OMIM:259720
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Cervix cancer, Insulinoma, Abnormality of pancreas physiology, Extrahepatic choles... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Micropenis, Cryptorchidism, Hypocalcemia OMIM:607143
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Elevated hepatic transaminase, Hyper... ORPHA:99845
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia ORPHA:29072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Precocious puberty, Hypertriglyceridemia ORPHA:369837
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly ORPHA:29073
Glucagonoma
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Extrahepatic cholestasis, Intrahepatic cho... ORPHA:97280
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Insulinoma, Hypercalcemia, Pancreatic islet cell adenoma OMIM:131100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Timothy Syndrome
Hypocalcemia OMIM:601005
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Cervical neoplasm, Neoplasm of the liver ORPHA:653
Pheochromocytoma
Hypercalcemia OMIM:171300
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Elevated circulating creatinine concent... OMIM:137920
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Peritoneal effusion ORPHA:90362
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Zollinger-Ellison Syndrome
Hypercalcemia, Extrahepatic cholestasis, Jaundice ORPHA:913
X-Linked Agammaglobulinemia
Hepatitis, Hypocalcemia ORPHA:47
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Visceral Steatosis, Congenital
Jaundice, Hepatic steatosis, Neonatal death, Hypocalcemia OMIM:228100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver, Papillary cystadenoma of th... OMIM:193300
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Splenomegaly, Hypocalcemia OMIM:259700
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypocalcemia ORPHA:746
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia, Precocious puberty ORPHA:437
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypocalcemic seizures, Uterus didelphys, Vaginal atresia, Septate vagina, ... ORPHA:2237
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Peritonitis, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:36234
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Williams Syndrome
Hypercalcemia, Urethral stenosis, Abnormal circulating lipid concentration, Elevated circulating ... ORPHA:904
Pearson Syndrome
Hepatomegaly, Hypokalemia, Macronodular cirrhosis, Hypophosphatemia, Hyperalaninemia, Hypomagnese... ORPHA:699
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypergonadotropic hypogonadism, Hypocalce... ORPHA:79444
Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Absent gallbladder, Hypocalcemia OMIM:300712
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Small scrotum, Cirrhos... OMIM:613658
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hyperbilirubinemia, Absent gallbladder, Micropenis, Hypocalcemia, Cryptorchidism ORPHA:163979
Sarcoidosis
Hypercalcemia, Hepatomegaly, Abnormal reproductive system morphology, Abnormal liver parenchyma m... ORPHA:797
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hepatic calcification, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hepatitis, Hypocalcemia, Splenomegaly, Hypomagnesemia, Hypoalbuminemi... ORPHA:37042
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Pancreatic fibrosis, Sclerosing cholangitis, Hypocalcemia ORPHA:64744
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Sotos Syndrome
Hypospadias, Hypercalcemia, Congenital posterior urethral valve, Phimosis, Tremor, Prolonged neon... ORPHA:821
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Insulinoma, Neoplasm of the pancreas ORPHA:652
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypergonadotropic hypogonadism, Hypocalce... ORPHA:79443
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Hypocalcemia OMIM:212750
Velocardiofacial Syndrome
Cryptorchidism, Hypocalcemia OMIM:192430
Williams-Beuren Syndrome
Hypercalcemia, Micropenis, Portal hypertension, Urethral stenosis OMIM:194050
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic cysts, Hepatic ... OMIM:218330
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hypogonadism, Hypocalcemia, Cryptorchidism, Hyperphosphatemia ORPHA:280651
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Decreased liver function, Hepat... ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hypophosphatemia, Splenomegaly, Tremor, Hypocalcemia ORPHA:667
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Hypocalcemia ORPHA:175
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Johanson-Blizzard Syndrome
Hypospadias, Rectovaginal fistula, Increased VLDL cholesterol concentration, Urethrovaginal fistu... OMIM:243800
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Hypocalcemia ORPHA:2785
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Von Hippel-Lindau Disease
Pancreatic cysts, Neoplasm of the pancreas, Epididymal cyst, Papillary cystadenoma of the epididy... ORPHA:892
22Q11.2 Deletion Syndrome
Hypospadias, Cholelithiasis, Splenomegaly, Abnormality of the uterus, Hypocalcemia, Cryptorchidism ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Pancreatitis, Hypocalcemia ORPHA:544482
Gitelman Syndrome
Hypokalemia, Neoplasm of the pancreas, Hypomagnesemia, Hypocalcemia, Hypermagnesemia ORPHA:358
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Decreased testicular size, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hennekam Syndrome
Splenomegaly, Hypocalcemia ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unicornuate uterus, Hypomagnesemia, Hepatic steatosis, Hepatosplenomegaly, Micropenis, Cholestasi... OMIM:619503
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism, Pr... ORPHA:2044
Charge Syndrome
Labial hypoplasia, Hypogonadotropic hypogonadism, External genital hypoplasia, Micropenis, Hypopl... OMIM:214800
Thymic Aplasia
Hypocalcemic tetany, Atypical or prolonged hepatitis ORPHA:83471
Digeorge Syndrome
Cholelithiasis, Hypocalcemia OMIM:188400

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 2700097O09Rik

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 2700097O09Rik.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) 2700097O09Riktm1(KOMP)Vlcg PMC4739719

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MGI Allele Allele Type Produced
2700097O09Riktm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
2700097O09Riktm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
2700097O09Riktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
2700097O09Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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