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Gene: Pof1b MGI:1916943

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Gene Summary

Name:
premature ovarian failure 1B
Synonyms:
2310066B14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
small liver Pof1bem1(IMPC)Mbp HOM Early adult 0.00
small kidney Pof1bem1(IMPC)Mbp HOM Early adult 0.00
increased circulating calcium level Pof1bem1(IMPC)Mbp HOM Early adult 3.17×10-05
abnormal skin morphology Pof1bem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Pof1bem1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Pof1bem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Whole Body Dorso Ventral

51 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Pof1b 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.

The table below shows human diseases associated to Pof1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 2B
OMIM:300604

The table below shows human diseases predicted to be associated to Pof1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia ORPHA:2123
Adamantinoma
Hypercalcemia ORPHA:55881
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Recurrent pancreatitis, Polycystic kid... OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis OMIM:145980
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia ORPHA:284400
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Hypercalcemia ORPHA:69077
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... OMIM:239200
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Hypocalcemia ORPHA:100025
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia OMIM:618440
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Hypophosphatasia
Hypercalcemia ORPHA:436
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia OMIM:612089
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
2P21 Microdeletion Syndrome
Nephrolithiasis, Hypocalcemia, Cystinuria ORPHA:163693
Thymic Neuroendocrine Tumor
Hypercalcemia, Pancreatic islet cell adenoma, Calcium nephrolithiasis ORPHA:97289
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise... ORPHA:99845
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, ... ORPHA:99880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia ORPHA:96168
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, ... ORPHA:143
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia ORPHA:199299
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97278
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Nephrotic syndrome, H... ORPHA:29073
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97282
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97283
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... ORPHA:95409
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Refractory Celiac Disease
Elevated hepatic transaminase, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, H... ORPHA:398063
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... ORPHA:369837
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria OMIM:606407
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia ORPHA:476126
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Intermediate Osteopetrosis
Hypocalcemia, Hepatosplenomegaly ORPHA:210110
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... ORPHA:653
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, Hepatic failur... OMIM:235255
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97280
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis OMIM:602361
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi... OMIM:612462
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Microp... ORPHA:1655
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Insulinoma, Extrahepatic cholestasis, Abnormalit... ORPHA:276152
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Jaundice, Hypercalcemia, Extrahepatic cholestasis ORPHA:913
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Insulinoma, Pancreatic islet cell adenoma OMIM:131100
Addison Disease
Hyponatremia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Incre... ORPHA:85138
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Proteinuri... ORPHA:699
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
X-Linked Agammaglobulinemia
Hypocalcemia, Hepatitis ORPHA:47
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hypocalcemia OMIM:259700
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94089
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Nephrolithiasis, Hypercalc... ORPHA:797
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Hypocalcemia, Chronic hepatic failure, Cholestasis ORPHA:746
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Splenomegaly, Hepatitis, Abnormal blood ion concentration, Tubuloi... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Peri... ORPHA:36234
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Proteinuria, Hypercalcemia, Elevated circulating creati... ORPHA:904
Williams-Beuren Syndrome
Renal insufficiency, Hypercalcemia, Portal hypertension, Urethral stenosis, Renal hypoplasia, Hyp... OMIM:194050
Timothy Syndrome
Hypocalcemia OMIM:601005
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia OMIM:607143
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Hypercalciuria ORPHA:652
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesico... ORPHA:2237
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia ORPHA:64744
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... OMIM:218330
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79444
Craniofacioskeletal Syndrome
Hydronephrosis, Absent gallbladder, Hypospadias, Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Hypocalcemia OMIM:212750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma... ORPHA:358
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Phimosis, Congenital poste... ORPHA:821
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... ORPHA:2785
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79443
Cartilage-Hair Hypoplasia
Hepatomegaly, Mucopolysacchariduria, Hypocalcemia, Abnormality of the pancreas ORPHA:175
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Decreased urine output, Hypocalcemia, Acute kidney ... ORPHA:544482
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hennekam Syndrome
Splenomegaly, Hypocalcemia, Horseshoe kidney, Ectopic kidney ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Hypocalcemia, Hypophosphatemia ORPHA:667
22Q11.2 Deletion Syndrome
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycystic kidne... ORPHA:567
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Portal ... OMIM:243800
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Unilateral renal agenesis, Cholestasis, Hepatosplenomegaly, Urinary urgency,... OMIM:619503
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hypocalcemia, Cholelithiasis, Hepat... OMIM:188400
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Atypical or prolonged hepatitis ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Charge Syndrome
Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis OMIM:214800
Premature Ovarian Failure 2B
OMIM:300604

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 Pof1b

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 Pof1b.

No publications found that use IMPC mice or data for Pof1b.

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MGI Allele Allele Type Produced
Pof1bem1(IMPC)Mbp Exon Deletion Mice
Pof1btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pof1btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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