Gene Summary

Name:
neural precursor cell expressed, developmentally down-regulated gene 1
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
preweaning lethality, complete penetrance Nedd1em1(IMPC)H HOM   Early adult 0.00
increased circulating potassium level Nedd1em1(IMPC)H HET   Early adult 7.41×10-05
decreased circulating calcium level Nedd1em1(IMPC)H HET   Early adult 7.93×10-05
embryonic lethality prior to organogenesis Nedd1em1(IMPC)H HOM   E9.5 0.00
decreased circulating fructosamine level Nedd1em1(IMPC)H HET Early adult 7.44×10-06
abnormal coat/ hair morphology Nedd1em1(IMPC)H HET Early adult 2.29×10-05

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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.

Phenotype associated images not available

Human diseases caused by Nedd1 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 Nedd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hirsutism, Hypertriglyceridemia OMIM:612526
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes ORPHA:163693
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Alopecia, Hypomagnesemia, Nail dystrophy OMIM:175500
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia, Abnormality of the frontal hairline ORPHA:557003
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Long eyelashes OMIM:606407
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Alop... ORPHA:31824
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Hypocalcemia ORPHA:1563
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Timothy Syndrome
Hypocalcemia OMIM:601005
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Alopecia ORPHA:93160
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
X-Linked Agammaglobulinemia
Hypocalcemia, Alopecia ORPHA:47
Oculoskeletodental Syndrome
Low anterior hairline, Hypocalcemia, Low posterior hairline, Hypercalcemia OMIM:618440
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Alopecia ORPHA:428
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hypertrichosis OMIM:235255
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Liddle Syndrome
Hypokalemia ORPHA:526
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Alop... ORPHA:37042
Hypophosphatasia
Hypercalcemia ORPHA:436
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Alopecia OMIM:212750
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Infantile Myofibromatosis
Hypercalcemia, Abnormal hair morphology ORPHA:2591
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hirsutism, Hyponatremia, Increased circulating renin level ORPHA:90791
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Sparse axillary hair, Hypercalcem... ORPHA:95409
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Cartilage-Hair Hypoplasia
Hypocalcemia, Sparse and thin eyebrow, Sparse hair ORPHA:175
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Cranioectodermal Dysplasia 1
Hypocalcemia, Sparse hair, Slow-growing hair, Short nail, Fine hair OMIM:218330
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Red hair, Hyperphosphatemia, Fair hair ORPHA:280651
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Sparse axillary hair, Hypercalcem... ORPHA:85138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Hennekam Syndrome
Hypocalcemia, Sparse axillary hair ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Abnormality of hair texture ORPHA:667
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Alopecia universalis, Hypocalcemic seizures OMIM:277440
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Synophrys ORPHA:476126
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Monosomy 13Q34
Infantile hypercalcemia, Horizontal eyebrow ORPHA:96168
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Mastocytosis
Hypercalcemia ORPHA:98292
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Pheochromocytoma
Hypercalcemia OMIM:171300
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Digeorge Syndrome
Hypocalcemia OMIM:188400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Fair hair, Hypoplastic nipples, Sparse sc... OMIM:243800
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Cushing Disease
Generalized hirsutism, Hypokalemia ORPHA:96253
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hirsutism, Hyponatremia, Frontal balding, Hypochloremia, Hyperkalemia ORPHA:90794
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Hirsutism OMIM:219090
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Mercury Poisoning
Hypokalemia ORPHA:330021
Rabson-Mendenhall Syndrome
Low anterior hairline, Premature graying of hair, Thick hair, Hirsutism, Increased C-peptide leve... ORPHA:769
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hirsutism, Alopecia, Hypokalemia ORPHA:90795
Charge Syndrome
Hypocalcemia OMIM:214800
Adrenocortical Carcinoma
Hypokalemia, Hypertrichosis ORPHA:1501
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Ppoma
Hypercalcemia ORPHA:97278
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Hypokalemia, Hirsutism ORPHA:786
Somatostatinoma
Hypercalcemia ORPHA:97283
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Absent pubic hair, Decreased circulating renin level, Absent axillary hair, Hypokalemia ORPHA:90793
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Grfoma
Hypercalcemia ORPHA:97261
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Sparse scalp hair, Hypokalem... ORPHA:534
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
Leprechaunism
Hypokalemia, Hypertrichosis, Increased circulating renin level, Facial hypertrichosis ORPHA:508
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Abnormal hair quantity ORPHA:91347
Proximal Renal Tubular Acidosis
Hyperuricosuria, Hypokalemia, Bicarbonaturia ORPHA:47159
Sarcoidosis
Hypercalcemia, Alopecia ORPHA:797
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... ORPHA:466677
Cushing Syndrome Due To Ectopic Acth Secretion
Generalized hirsutism, Hypokalemia ORPHA:99889
Williams-Beuren Syndrome
Hypercalcemia, Medial flaring of the eyebrow, Premature graying of hair OMIM:194050
Nelson Syndrome
Hypokalemia ORPHA:199244
Sotos Syndrome
Sparse anterior scalp hair, Hypercalcemia ORPHA:821
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Hypokalemia, Alopecia, Abnormalit... ORPHA:286

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 Nedd1

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 Nedd1.

No publications found that use IMPC mice or data for Nedd1.

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MGI Allele Allele Type Produced
Nedd1em1(IMPC)H Exon Deletion Mice
Nedd1em2(IMPC)H Exon Deletion Mice

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