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Gene: Fam184b MGI:2442958

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Gene Summary

Name:
family with sequence similarity 184, member B
Synonyms:
9630031F12Rik

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
increased circulating glucose level Fam184btm2b(EUCOMM)Wtsi HOM Early adult 9.03×10-07
increased circulating calcium level Fam184btm2b(EUCOMM)Wtsi HOM Early adult 4.37×10-07

Download data as:  TSV  XLS

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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
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Fam184b 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 Fam184b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus OMIM:612526
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypophosphatasia
Hypercalcemia ORPHA:436
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Acute Adrenal Insufficiency
Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, Hypercalcemia, Hype... ORPHA:95409
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia ORPHA:96168
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Addison Disease
Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hyperuri... ORPHA:85138
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... ORPHA:88673
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Diabetes mellitus ORPHA:249
Mastocytosis
Hypercalcemia ORPHA:98292
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Pheochromocytoma
Hypercalcemia OMIM:171300
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Multiple Endocrine Neoplasia Type 4
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypercalcemia, Increased glucagon level ORPHA:276152
Vipoma
Hypokalemia, Hypercalcemia, Diabetes mellitus ORPHA:97282
Cholera
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Somatostatinoma
Hypercalcemia, Diabetes mellitus ORPHA:97283
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:26793
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level ORPHA:913
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Glucagonoma
Hypercalcemia, Diabetes mellitus ORPHA:97280
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, Elevated circulatin... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Ppoma
Hypercalcemia ORPHA:97278
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia OMIM:246200
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Necrotizing Enterocolitis
Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Grfoma
Hypercalcemia ORPHA:97261
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Diabetes mellitus,... ORPHA:465508
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hypoglutaminemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hype... ORPHA:3008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Type ... ORPHA:37042
Gitelman Syndrome
Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokalemia, Hypocalcemia, Diabet... ORPHA:358
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Type I diabetes mellitus OMIM:212750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Williams Syndrome
Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Hypercalcemia, Abn... ORPHA:904
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:151660
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... OMIM:248370
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Mitchell-Riley Syndrome
Hyperbilirubinemia, Hyperglycemia OMIM:615710
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperuricemia, Hyperglycemia, Hyperammonemia ORPHA:134
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... ORPHA:769
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Diabetes mellitus, Hyper... ORPHA:699
Williams-Beuren Syndrome
Glucose intolerance, Hypercalcemia, Diabetes mellitus OMIM:194050
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Sarcoidosis
Hypercalcemia ORPHA:797
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia, Diabetes mellitus ORPHA:544482
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Sotos Syndrome
Neonatal hypoglycemia, Hypercalcemia ORPHA:821
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Diabetes mellitus ORPHA:280651
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulat... ORPHA:508
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia ORPHA:99885
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Increased circulating cre... ORPHA:466677
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Atypical Werner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Glycosuria, Hypertriglyceridemia, Fasting hyperinsul... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperglycemia ORPHA:293987
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia OMIM:619503
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Diabetes mellitus OMIM:243800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Digeorge Syndrome
Hypocalcemia OMIM:188400
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Hyperglycemia, Diabetes mellitus OMIM:600001
Charge Syndrome
Hypocalcemia OMIM:214800

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 Fam184b

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 Fam184b.

No publications found that use IMPC mice or data for Fam184b.

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MGI Allele Allele Type Produced
Fam184btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fam184btm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Fam184btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fam184btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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