Gene Summary

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

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 Fam184btm2b(EUCOMM)Wtsi HOM Early adult 3.77×10-07
increased circulating glucose level Fam184btm2b(EUCOMM)Wtsi HOM Early adult 8.95×10-07

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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Blue Diaper Syndrome
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Essential Fructosuria
Hyperglycemia ORPHA:2056
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia
Hypercalcemia ORPHA:436
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
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
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hypercalcemia, Hyponatremia ORPHA:199299
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... ORPHA:552
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Hypo... ORPHA:95409
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalcemia, Hyponatr... ORPHA:88673
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatine kinase ORPHA:681
Addison Disease
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Type I diabetes mellitus, Hypogly... ORPHA:85138
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... OMIM:615812
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypophosphatemia, Hypercalcemia ORPHA:249
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Mastocytosis
Hypercalcemia ORPHA:98292
Pheochromocytoma
Hypercalcemia OMIM:171300
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoac... ORPHA:2298
Multiple Endocrine Neoplasia Type 4
Fasting hyperinsulinemia, Hypercalcemia, Hyperinsulinemic hypoglycemia, Increased glucagon level ORPHA:276152
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Vipoma
Diabetes mellitus, Hypokalemia, Hypercalcemia ORPHA:97282
Cholera
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia ORPHA:173
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Somatostatinoma
Diabetes mellitus, Hypercalcemia ORPHA:97283
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Elevated circulating creat... ORPHA:26793
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level ORPHA:913
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Glucagonoma
Diabetes mellitus, Hypercalcemia ORPHA:97280
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Diabetes mellitus, Postprandial hypergl... ORPHA:2088
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia OMIM:228100
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Ppoma
Hypercalcemia ORPHA:97278
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Donohue Syndrome
Hyperglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Grfoma
Hypercalcemia ORPHA:97261
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia ORPHA:391673
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... ORPHA:465508
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperglycemia, Glucose int... OMIM:608612
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Type I diabetes mellitus, Abnormal blood ion concentration, Hypocalce... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Type I diabetes mellitus OMIM:212750
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... ORPHA:3008
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Gitelman Syndrome
Diabetic ketoacidosis, Type II diabetes mellitus, Hypokalemia, Maternal diabetes, Insulin resista... ORPHA:358
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Williams Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circ... ORPHA:904
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Hypercholesterolemia, H... OMIM:248370
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:617913
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... OMIM:151660
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Beta-Ketothiolase Deficiency
Hyperglycemia, Hyperammonemia, Hyperuricemia, Hypoglycemia ORPHA:134
Williams-Beuren Syndrome
Diabetes mellitus, Glucose intolerance, Hypercalcemia OMIM:194050
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79443
Rabson-Mendenhall Syndrome
Increased C-peptide level, Impaired glucose tolerance, Diabetic ketoacidosis, Hypokalemia, Insuli... ORPHA:769
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Pearson Syndrome
Hyperalaninemia, Glycosuria, Hypokalemia, Hypophosphatemia, Diabetes mellitus, Hypocalcemia, Hypo... ORPHA:699
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sarcoidosis
Hypercalcemia ORPHA:797
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Sotos Syndrome
Hypercalcemia, Neonatal hypoglycemia ORPHA:821
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Acrodysostosis With Multiple Hormone Resistance
Diabetes mellitus, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Hyperinsulinemic hypogl... OMIM:619991
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Leprechaunism
Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulating renin level, Recurrent i... ORPHA:508
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Scorpion Envenomation
Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, Hyperglycemia, Increased ... ORPHA:466677
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hyperglycemia, Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia OMIM:124000
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Insulin-resistant dia... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Digeorge Syndrome
Hypocalcemia OMIM:188400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:220111
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria 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.

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
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

The IMPC Newsletter

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

Subscribe to newsletter