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Gene: Baz2a MGI:2151152

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Gene Summary

Name:
bromodomain adjacent to zinc finger domain, 2A
Synonyms:
C030005G16Rik,  Tip5,  Walp3

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 fasting circulating glucose level Baz2aem1(IMPC)Tcp HOM   Early adult 3.76×10-05
increased circulating sodium level Baz2aem1(IMPC)Tcp HOM Early adult 3.64×10-05
abnormal skin morphology Baz2aem1(IMPC)Tcp HOM Early adult 0.00
small testis Baz2aem1(IMPC)Tcp HOM Early adult 0.00
small epididymis Baz2aem1(IMPC)Tcp HOM Early adult 0.00
increased blood urea nitrogen level Baz2aem1(IMPC)Tcp HOM Early adult 1.34×10-09
small kidney Baz2aem1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Baz2aem1(IMPC)Tcp 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.

Gross Pathology and Tissue Collection

Images

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Skull Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

5 Images

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Histopathology

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Baz2a 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 Baz2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... OMIM:617872
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Cryptorchidism, Hyd... OMIM:615926
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... OMIM:613845
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Diabetes insipidus, Polyuria, Hypernatremia OMIM:304800
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... ORPHA:94093
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria OMIM:125800
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Renal insufficiency, Nephr... ORPHA:223
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Mirage Syndrome
Microphallus, Hypoglycemia, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukop... OMIM:617053
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decreased circulati... ORPHA:199296
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Decreas... ORPHA:97362
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal female external genitalia morphology, Increased circulating ACTH level, Ab... ORPHA:90790
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruc... OMIM:154230
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Aica-Ribosiduria Due To Atic Deficiency
Clitoral hypertrophy, Hypoglycemia, Hyponatremia, Fused labia minora, Elevated urinary 5-amino-4-... OMIM:608688
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Central hy... ORPHA:1667
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula... OMIM:223360
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Hyperkalemia... ORPHA:90794
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Acute kidney injury, Dysuria, Elevated circulating creatinine conc... ORPHA:49041
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Addison Disease
Adrenal calcification, Hypoparathyroidism, Premature ovarian insufficiency, Renal salt wasting, H... ORPHA:85138
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyperactive renin-... OMIM:264350
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Nocturia ORPHA:178029
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... ORPHA:199299
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkalemia, Increase... OMIM:203400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Hereditary Coproporphyria
Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi... ORPHA:79273
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Hypernatremia OMIM:615465
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased pro... OMIM:619381
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:235200
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de... ORPHA:556037
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro... ORPHA:231111
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de... ORPHA:556030
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Macroscopic hematuria, Membranoproli... ORPHA:251004
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Glucocortocoid-insensiti... ORPHA:171876
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... OMIM:274150
Acute Adrenal Insufficiency
Normocytic anemia, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... ORPHA:100924
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Decreased female lib... ORPHA:91355
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre... ORPHA:549
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Male in... OMIM:219800
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Snakebite Envenomation
Hyponatremia, Acute kidney injury, Hypopituitarism, Thrombocytopenia ORPHA:449285
Whipple Disease
Insulin resistance, Mediastinal lymphadenopathy, Splenomegaly, Hyponatremia, Anemia, Hypothyroidi... ORPHA:3452
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Porphyria Variegata
Chronic kidney disease, Abnormality of the liver, Increased urinary porphobilinogen, Abnormal cir... ORPHA:79473
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Inferti... ORPHA:465508
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Neutropenia... ORPHA:391673
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Shigellosis
Acute kidney injury, Hypoglycemia, Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Le... ORPHA:810
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Elevate... OMIM:137920
Cholera
Acute kidney injury, Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine outpu... ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Splenomeg... OMIM:617913
Cockayne Syndrome Type 1
Male hypogonadism, Renal insufficiency, Cryptorchidism, Proteinuria, Anemia, Increased blood urea... ORPHA:90321
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hypokalemia, Hyponatre... ORPHA:31824
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Familial Hypoaldosteronism
Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, Decreased urinary p... ORPHA:427
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, Decre... ORPHA:79324
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatremia, Elev... ORPHA:247353
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hypernatriuria, Adrenal calcification, Abnormal urine potassium concentration, ... ORPHA:275761
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglyc... ORPHA:293978
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon... ORPHA:447
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc... OMIM:602522
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Hyponatremia, Protei... ORPHA:2162
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Megaloblas... OMIM:222300
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Rena... ORPHA:534
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hemolytic anemia, Leukocytosis, Hypocalcemia, Hyponatremia... ORPHA:544482
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Infant Botulism
Hyponatremia ORPHA:178478
Familial Dysautonomia
Hyponatremia, Renal insufficiency, Abnormal peritoneum morphology ORPHA:1764
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion, Neutrophilia ORPHA:79139
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicul... OMIM:300322
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Paraganglioma, Multiple renal cysts, Hepatic hemangioma, Epididym... OMIM:193300
Goodpasture Syndrome
Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Glomerulonephritis, Incre... OMIM:233450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth ho... ORPHA:273
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Neoplasm of the pancreas, Elevated urinar... ORPHA:892
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Ectopic kidney ORPHA:3063
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Stage 5 chronic kidney disease, Cryptorchidism,... ORPHA:2044
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Epididymal c... OMIM:136140

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.

Phenotype Allele Zygosity Sex Life Stage
Mammary gland - MPATH pathological process term hyperplasia Baz2aem1(IMPC)Tcp HOM Early adult
Prostate gland - MPATH pathological process term compression Baz2aem1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Baz2aem1(IMPC)Tcp HOM Early adult
Prostate gland - MPATH pathological process term hypertrophy Baz2aem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term dysplasia Baz2aem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Baz2aem1(IMPC)Tcp HOM Early adult

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 Baz2a.

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

Title Journal IMPC Allele PubMed ID
TIP5 primes prostate luminal cells for the oncogenic transformation mediated by PTEN-loss. Proceedings of the National Academy of Sciences of the United States of America (February 2020) Baz2atm1a(EUCOMM)Hmgu Baz2atm1b(EUCOMM)Hmgu PMC7035629

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
Baz2atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Baz2atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Baz2aem1(IMPC)Tcp Exon Deletion Mice

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