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Gene: Babam2 MGI:1333875

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Gene Summary

Name:
BRISC and BRCA1 A complex member 2
Synonyms:
B830038C02Rik,  Bre,  6030405P19Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Babam2tm1a(EUCOMM)Wtsi HOM Early adult 1.39×10-05
increased bone mineral density Babam2tm1a(EUCOMM)Wtsi HOM Early adult 2.80×10-09
increased bone mineral content Babam2tm1a(EUCOMM)Wtsi HOM Early adult 3.44×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Babam2 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 Babam2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal sclerosis, Facial hyperostosis OMIM:218300
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Difficulty walking, Arthritis ORPHA:564003
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Atax... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, D... ORPHA:566943
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteoporosis
Osteoporosis OMIM:166710
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures, Gait disturbance ORPHA:85193
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Osteopetrosis, Pathologic fractu... OMIM:259700
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Sclerosis of skull base, Cortical thickenin... OMIM:131300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Osteo... ORPHA:77297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Osteopetrosis OMIM:618476
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteolytic defects of the... ORPHA:763
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Ataxia, Osteolysis, Gait d... ORPHA:77261
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density, Gait a... ORPHA:33364
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Gait disturbance, Shoulder flexion... ORPHA:800
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density, Ataxia ORPHA:35687
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Abnormal bone s... ORPHA:355
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Werner Syndrome
Osteoporosis, Increased bone mineral density, Joint stiffness ORPHA:902
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:600901
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227650
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus OMIM:227646
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Increased bone mineral density, Hyperostosis ... ORPHA:79443
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227645
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Atypical Werner Syndrome
Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolytic defects of the p... ORPHA:79474
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Williams Syndrome
Dysmetria, Osteopenia, Increased bone mineral density, Joint stiffness, Joint laxity, Osteoporosi... ORPHA:904
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Recurrent fractures ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull base OMIM:269150

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 Babam2

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 Babam2.

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

Title Journal IMPC Allele PubMed ID
BRE plays an essential role in preventing replicative and DNA damage-induced premature senescence. Scientific reports (March 2016) Babam2tm1a(EUCOMM)Wtsi PMC4802329
BRE facilitates skeletal muscle regeneration by promoting satellite cell motility and differentiation. Biology open (January 2016) Babam2tm1a(EUCOMM)Wtsi PMC4823978

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MGI Allele Allele Type Produced
Babam2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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