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Gene: Cadps MGI:1350922

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Ca2+-dependent secretion activator
Synonyms:
CAPS1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cadps 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 Cadps by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Simplified gyral pattern OMIM:618328
Glucocorticoid Deficiency 3
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... OMIM:609197
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Fatiguable weakness of p... ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... OMIM:611890
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Pancreatitis, Adrenal insufficiency, Death in infancy OMIM:619386
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Adrenocorticotropic hormone excess, Adrenal insuf... OMIM:609981
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles ORPHA:370968
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... OMIM:300200
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Hyperhidrosis, R... OMIM:245400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuro... ORPHA:2590
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Immunodeficiency 95
Respiratory failure OMIM:619773
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Triple A Syndrome
Respiratory insufficiency, Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress OMIM:619057
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res... ORPHA:254875
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71526
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Fatigable weakness of respiratory muscles, Decreased miniature endplate pote... ORPHA:98913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Abnormal cortical gyration OMIM:616867
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Hyperekplexia 4
Respiratory failure OMIM:618011
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Motor neuron atr... ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Polymicrogyria OMIM:615330
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Pachygyria ORPHA:168486
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Respiratory failure, Ventilator dependence with inability to... OMIM:604320
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Hyperhidrosis, Death in infancy OMIM:614299
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Polymicrogyria OMIM:610678
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Pachygyria, Respiratory failure OMIM:614922
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure ORPHA:2254
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Hypergonadotropic hypogona... ORPHA:352447
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Pseu... OMIM:177735
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Abnormality of adrenal physiology, Adrenal insufficiency ORPHA:43
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Pachygyria OMIM:606612
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland OMIM:612079
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Abnormality of neuronal migration ORPHA:44
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Gray matter heterotopia, Cardiorespiratory arrest, Respiratory failure, Fatig... ORPHA:26791
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Hypothyroidism, Primary adrenal insufficiency, Decreased... OMIM:240300
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Leigh Syndrome
Respiratory insufficiency, Respiratory failure OMIM:256000
Wolman Disease
Adrenal calcification, Adrenal insufficiency ORPHA:75233
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Ciliary Dyskinesia, Primary, 5
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci... OMIM:608647
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... ORPHA:90793
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Respiratory failure, Pancreatitis ORPHA:70578
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:265120
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Type I diabetes mellitus OMIM:620166
Alg1-Cdg
Respiratory failure ORPHA:79327
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Snakebite Envenomation
Hypopituitarism, Respiratory failure ORPHA:449285
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism OMIM:614492
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, Precocious... ORPHA:361
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure OMIM:263000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Acute Lung Injury
Respiratory failure, Acute pancreatitis ORPHA:178320
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Reni Syndrome
Hypothyroidism, Hypogonadism, Adrenal insufficiency OMIM:617575
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Diabetes mellitus OMIM:613845
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... OMIM:610600
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Thyroid hemia... ORPHA:209905
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Polymicrogyria, Death in infancy, Abnormality of neuronal migration, R... OMIM:608836
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal re... OMIM:607625
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Respiratory failure ORPHA:445038
Zellweger Syndrome
Respiratory insufficiency, Polymicrogyria, Primary adrenal insufficiency, Death in infancy ORPHA:912
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:95513
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556037
Staphylococcal Necrotizing Pneumonia
Respiratory failure, Diabetes mellitus, Increased circulating procalcitonin concentration ORPHA:36238
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency, Death in infancy OMIM:278000
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Adenohypophysitis
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal size of pituitary... ORPHA:95512
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Hypoparathyroidism ORPHA:746
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Scedosporiosis
Respiratory failure, Diabetes mellitus ORPHA:449280
Peripartum Cardiomyopathy
Respiratory failure, Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Fatigable weakness of re... ORPHA:2912
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ... OMIM:615512
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Adrenal insufficiency ORPHA:427
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure OMIM:620296
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Pachygyria ORPHA:280210
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency ORPHA:231222
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Abnormal re... OMIM:615577
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Neonatal respiratory distress, Adrenal insufficiency OMIM:615510
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Boutonneuse Fever
Respiratory failure ORPHA:83313
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556030
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Respiratory failure OMIM:620327
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Agyria, Polymicrogyria OMIM:616538
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231226
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood OMIM:220110
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Respiratory i... ORPHA:2905
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:610921
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Proximal Spinal Muscular Atrophy
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakn... ORPHA:70
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency OMIM:617053
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level OMIM:203400
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Kearns-Sayre Syndrome
Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism OMIM:530000
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Asbestos Intoxication
Respiratory failure ORPHA:2302
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Primary Ciliary Dyskinesia
Respiratory failure, Neonatal respiratory distress ORPHA:244
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Lissencephaly, Respiratory insufficiency, Pachygyria, Respiratory failure, Intercostal muscle wea... ORPHA:258
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Ad... ORPHA:139399
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism... OMIM:269200
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Non-medullary thyroid carcinoma, Abnormality ... ORPHA:273
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231214
Myasthenia Gravis
Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymus morphology ORPHA:589
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure ORPHA:542323
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy OMIM:610505
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory failure, Death in childhood, Death in infancy OMIM:620278
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:496641
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Addison Disease
Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Increased circul... ORPHA:85138
Mercury Poisoning
Respiratory failure ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Paraganglioma ORPHA:139411
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Respiratory insufficiency, Hypothyroidism,... ORPHA:488632
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Respiratory insufficiency, Respiratory insufficiency d... ORPHA:365
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Adrenocorticotropic hormone deficie... ORPHA:199299
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, P... ORPHA:95409
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Leigh Syndrome
Respiratory failure ORPHA:506
Congenital Fiber-Type Disproportion Myopathy
Respiratory failure, Intercostal muscle weakness, Respiratory insufficiency due to muscle weaknes... ORPHA:2020
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy OMIM:617248
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Respiratory failure, Fatigable weakness ORPHA:60025
X-Linked Cerebral Adrenoleukodystrophy
Primary adrenal insufficiency, Decreased circulating cortisol level, Male hypogonadism ORPHA:139396
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ... ORPHA:90794
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:251510
Abetalipoproteinemia
Hypothyroidism, Respiratory failure ORPHA:14
Arterial Tortuosity Syndrome
Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:252010
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Bloom Syndrome
Respiratory failure, Diabetes mellitus ORPHA:125
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Chronic pancreatitis, Adrenal insufficiency OMIM:307030
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypothyroidism, Exocri... ORPHA:699
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Riddle Syndrome
Respiratory failure, Neonatal asphyxia ORPHA:420741
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Pituitary... ORPHA:805
Nocardiosis
Respiratory failure, Abnormality of the adrenal glands, Thyroiditis ORPHA:31204
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Nijmegen Breakage Syndrome
Respiratory failure, Abnormality of neuronal migration ORPHA:647
Listeriosis
Respiratory failure, Miscarriage ORPHA:533
Hemorrhagic Fever-Renal Syndrome
Respiratory failure, Hyperhidrosis ORPHA:340
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:79138
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Respiratory failure OMIM:613658
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Respiratory failure, Miscarriage, Lissencephaly ORPHA:96334
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Crimean-Congo Hemorrhagic Fever
Parotitis, Acute pancreatitis, Inappropriate antidiuretic hormone secretion, Hyperhidrosis, Orchi... ORPHA:99827
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363958
Joubert Syndrome 21
Respiratory failure OMIM:615636
Pallister-Hall Syndrome
Respiratory insufficiency, Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid hypoplasia, Panh... ORPHA:672
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c... OMIM:201750
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentration ORPHA:2636
Costello Syndrome
Respiratory insufficiency, Respiratory failure OMIM:218040
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency OMIM:300166
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Simplified gyral pattern, Polymicrogyria ORPHA:500150
Niemann-Pick Disease Type C
Respiratory insufficiency, Respiratory failure ORPHA:646
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure ORPHA:79404
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure ORPHA:731
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753
Ulbright-Hodes Syndrome
Respiratory failure, Maternal diabetes ORPHA:3404

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 Cadps

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 Cadps.

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

Title Journal IMPC Allele PubMed ID
The Synaptic Vesicle Priming Protein CAPS-1 Shapes the Adaptation of Sensory Evoked Responses in Mouse Visual Cortex. Cell reports (March 2020) Cadpstm1c(EUCOMM)Hmgu Cadpstm1a(EUCOMM)Hmgu 32160535

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.

MGI Allele Allele Type Produced
Cadpstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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