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Gene: Aadac MGI:1915008

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Gene Summary

Name:
arylacetamide deacetylase
Synonyms:
5033417E09Rik,  Aada

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
abnormal kidney morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00
abnormal urinary bladder morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Aadacem1(IMPC)Mbp HOM Early adult 0.00
small thymus Aadacem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Aadacem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Aadacem1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Aadac 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 Aadac by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys OMIM:613885
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin... OMIM:273250
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne... ORPHA:449395
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism OMIM:618188
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular si... ORPHA:168569
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain... OMIM:608836
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru... ORPHA:83628
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membranoprolifera... ORPHA:251004
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo... OMIM:276700
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Anemia, Increased hepatic gl... ORPHA:79259
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni... OMIM:612651
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Leukopenia, Proteinuria... ORPHA:505248
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number... OMIM:137920
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... OMIM:619151
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,... ORPHA:79328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... OMIM:617914
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Leprechaunism
Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex... ORPHA:508
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f... OMIM:258040
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t... OMIM:616258
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... ORPHA:322
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydron... OMIM:601186
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Polycystic k... OMIM:300855
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidn... ORPHA:3320
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... ORPHA:432
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal... ORPHA:744
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... OMIM:615300
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow hypocellu... OMIM:614083
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... ORPHA:991
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Supernumerary nipple, Hypospadias, Renal cyst, Cryptorchidism, Hyd... OMIM:312870
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci... OMIM:618419
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Le... OMIM:274000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Renal malrotation, Hypoplasia of the uterus OMIM:615866
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus... OMIM:236680
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... ORPHA:3464
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute... ORPHA:2729
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Limb-Mammary Syndrome
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... ORPHA:69085
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo... OMIM:135900
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali... OMIM:194190
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Anterior h... ORPHA:709
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Neu-Laxova Syndrome 1
Renal agenesis, Bifid uterus, Cryptorchidism OMIM:256520
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, B... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus... OMIM:601803
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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 Aadac

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 Aadac.

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

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MGI Allele Allele Type Produced
Aadactm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aadacem1(IMPC)Mbp Exon Deletion Mice, Tissue

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