Gene Summary

Name:
bromodomain adjacent to zinc finger domain, 2B
Synonyms:
5830435C13Rik,  D2Ertd794e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Baz2bem1(IMPC)Wtsi HOM Early adult 7.63×10-11
decreased bone mineral density Baz2bem1(IMPC)Wtsi HOM Early adult 8.39×10-12
decreased bone mineral content Baz2bem1(IMPC)Wtsi HOM Early adult 6.93×10-07
increased leukocyte cell number Baz2bem1(IMPC)Wtsi HOM Early adult 4.72×10-10
increased total body fat amount Baz2bem1(IMPC)Wtsi HOM Early adult 3.08×10-05
decreased body length Baz2bem1(IMPC)Wtsi HOM   Early adult 6.78×10-05
decreased circulating glucose level Baz2bem1(IMPC)Wtsi HOM Early adult 4.50×10-05
abnormal coat/hair pigmentation Baz2bem1(IMPC)Wtsi HOM Early adult 3.53×10-05
decreased lean body mass Baz2bem1(IMPC)Wtsi HOM Early adult 7.04×10-05

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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.

Legacy Phenotype Associated Images

View all 6 images

Human diseases caused by Baz2b 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 Baz2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:143500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating enzyme concentration or ... ORPHA:243343
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Increased adi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Increased adi... ORPHA:71526
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Red hair OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Hyperlipidem... ORPHA:79477
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thri... ORPHA:100
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Fasting hypoglycemia, Hyperglycemia, Small for gestation... OMIM:262190
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Obesity, Advanced ossification of carpal bones, Diabetes mellitus, Blue irides, Fair hair OMIM:614613
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, Osteopo... OMIM:613989
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenom... OMIM:618541
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Abnormality of hair pigm... OMIM:618156
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p... ORPHA:231222
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair ORPHA:2221
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha... ORPHA:3322
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Red hair, Hypoglycemic seizures OMIM:609734
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, C... ORPHA:53271
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Dia... OMIM:616026
Chediak-Higashi Syndrome
Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati... OMIM:214500
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-... OMIM:617099
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Anemia, Inguinal hernia, White hair, Lymphopenia, Fine hair ORPHA:935
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Osteoporosis, Joint hypermobil... ORPHA:90354
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Ch├ędiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Hypopigmentation of the ski... ORPHA:167
Brittle Cornea Syndrome 1
Joint hypermobility, Atypical scarring of skin, Red hair, Dentinogenesis imperfecta OMIM:229200
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Menkes Disease
Tarsal synostosis, Chondrocalcinosis, Hypopigmentation of hair, Inguinal hernia, Woolly hair, Ost... ORPHA:565
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, In... ORPHA:84064
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:398079
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Increased body weight, Hypopigmentation of the skin, Osteop... ORPHA:398069
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98754
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177901
Vici Syndrome
Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatin... OMIM:242840
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokal... OMIM:219800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Limitation of movement at ankles, Iris hy... ORPHA:98794
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:739
Hermansky-Pudlak Syndrome
Neutropenia, Hypopigmentation of hair, Abnormal dental enamel morphology, Hypopigmentation of the... ORPHA:79430
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Degcags Syndrome
Premature graying of hair, Hypopigmentation of the skin, Abnormal spleen morphology, Low posterio... OMIM:619488
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Joint h... ORPHA:96169
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Inguinal hernia, Limitation of joint mobility, Iris hypopigment... ORPHA:2719
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Joint hypermobility, Coarse hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Hypopigmentation of hair, Abnormal dental enamel morphology, Abn... ORPHA:818

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 Baz2b

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 Baz2b.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Baz2bem1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Baz2bem1(IMPC)Wtsi Baz2bem1(IMPC)Wtsi PMC6671969

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
Baz2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Baz2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Baz2bem1(IMPC)Wtsi Deletion Mice

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