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Gene: Abhd16a MGI:99476

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Gene Summary

Name:
abhydrolase domain containing 16A
Synonyms:
Bat5,  NG26,  D17H6S82E

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Abhd16atm1a(EUCOMM)Wtsi HOM   Early adult 4.01×10-05
male infertility Abhd16atm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased fasting circulating glucose level Abhd16atm1a(EUCOMM)Wtsi HOM Early adult 3.88×10-05
preweaning lethality, incomplete penetrance Abhd16atm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating magnesium level Abhd16atm1a(EUCOMM)Wtsi HOM Early adult 1.16×10-06
decreased body length Abhd16atm1a(EUCOMM)Wtsi HOM   Early adult 5.17×10-05
increased lean body mass Abhd16atm1a(EUCOMM)Wtsi HOM   Early adult 5.99×10-06

Download data as:  TSV  XLS

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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.

DSS Histology

Images

6 Images

View images
Legacy Phenotype Associated Images
Abhd16atm1a(EUCOMM)Wtsi
WT, Female, WTSI
Abhd16atm1a(EUCOMM)Wtsi
WT, Female, WTSI
Abhd16atm1a(EUCOMM)Wtsi
WT, Female, WTSI
Abhd16atm1a(EUCOMM)Wtsi
WT, Female, WTSI
Abhd16atm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 15 images

Abhd16atm1a(EUCOMM)Wtsi
abnormal tail morphology, abnormal tail tip morphology, HOM, Male, WTSI
Abhd16atm1a(EUCOMM)Wtsi
head, upturned snout, short snout, snout, abnormal snout morphology, HOM, Male, WTSI
Abhd16atm1a(EUCOMM)Wtsi
eye, abnormal eye morphology, narrow eye opening, HOM, Female, WTSI
Abhd16atm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, abnormal ventral coat pigmentation, HOM, Female, WTSI

Human diseases caused by Abhd16a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Abhd16a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 86, Autosomal Recessive
OMIM:619735

The table below shows human diseases predicted to be associated to Abhd16a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Elevated circulating dihyd... OMIM:223360
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Di... OMIM:613845
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating lactate de... ORPHA:158061
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:540
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia OMIM:145981
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Abnormal circulating biopterin concentration, Hypomagnesemi... ORPHA:1578
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Hypocalc... ORPHA:37042
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Failure to thrive, ... OMIM:219800
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Rhizomelic Chondrodysplasia Punctata, Type 2
Failure to thrive, Decreased circulating plasmalogen concentration, Reduced Acyl-CoA:dihydroxyace... OMIM:222765
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Failure to thri... ORPHA:358
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Abnormal circulating calcium concentration, Hypomagnesemia OMIM:248190
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum prostaglandin E2, Hypomag... OMIM:601678
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Severe failure... ORPHA:89938
Pearson Syndrome
Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Diabete... ORPHA:699
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypomagnesemia 3, Renal
Hyperphosphatemia, Failure to thrive, Increased circulating beta-C-terminal telopeptide concentra... OMIM:248250
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc... ORPHA:405
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Small for gestational age, Failure to thrive, Hyperchloriduria, Hypomagnesemia... OMIM:241200
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive OMIM:302060
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Inguinal hernia, Knee flexion contr... OMIM:619503
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:542323
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Sweet Syndrome
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:3243
Classic Galactosemia
Hypoglycemia, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ovari... ORPHA:79239
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:79124
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:85435
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Failure to thrive, Increased circulating interfer... ORPHA:85410
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Aromatase Deficiency
Insulin resistance, Female infertility, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hy... ORPHA:91
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Abnormal circulating interleukin concentration, Bone marrow hypo... ORPHA:3261
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Failure to thrive, Decreased fertility, Decreased circ... ORPHA:90793
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Partial Androgen Insensitivity Syndrome
Insulin insensitivity, Male sexual dysfunction, Azoospermia, Primary amenorrhea, Male infertility ORPHA:90797
Spastic Paraplegia 86, Autosomal Recessive
OMIM:619735

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 Abhd16a

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 Abhd16a.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. Biochemistry (June 2020) Abhd16atm1a(EUCOMM)Wtsi PMC7311203
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Abhd16atm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Abhd16atm1a(EUCOMM)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Abhd16atm1a(EUCOMM)Wtsi PMC5827107
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay. Nature chemical biology (January 2015) Abhd16atm1a(EUCOMM)Wtsi PMC4301979

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MGI Allele Allele Type Produced
Abhd16atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Abhd16atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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