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Gene: Anks4b MGI:1919324

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Gene Summary

Name:
ankyrin repeat and sterile alpha motif domain containing 4B
Synonyms:
2010013E14Rik,  Harp

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 vibrissa morphology Anks4btm2a(EUCOMM)Wtsi HOM Early adult 4.26×10-06
abnormal tooth morphology Anks4btm2a(EUCOMM)Wtsi HOM   Early adult 3.52×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 6)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 6)
Bone N/A heterozygote 0.0% (0 of 6)
Brain N/A heterozygote 33.33% (2 of 6)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote 0.0% (0 of 6)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 6)
Gall bladder N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 0.0% (0 of 6)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (4 of 6)
Large intestine N/A heterozygote 50% (3 of 6)
Liver N/A heterozygote 50% (3 of 6)
Lower urinary tract N/A heterozygote 33.33% (2 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Lymph node N/A heterozygote 50% (3 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 0.0% (0 of 6)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 33.33% (2 of 6)
Oviduct N/A heterozygote 0.0% (0 of 6)
Pancreas N/A heterozygote 50% (3 of 6)
Parathyroid gland N/A heterozygote 0.0% (0 of 6)
Peripheral nervous system N/A heterozygote 0.0% (0 of 6)
Peyer's patch N/A heterozygote 16.67% (1 of 6)
Pituitary gland N/A heterozygote 0.0% (0 of 6)
Prostate gland N/A heterozygote 16.67% (1 of 6)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 6)
Skin N/A heterozygote 0.0% (0 of 6)
Small intestine N/A heterozygote 50% (3 of 6)
Spinal cord N/A heterozygote 0.0% (0 of 6)
Spleen N/A heterozygote 0.0% (0 of 6)
Stomach N/A heterozygote 66.67% (4 of 6)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (3 of 6)
Thymus N/A heterozygote 0.0% (0 of 6)
Thyroid gland N/A heterozygote 16.67% (1 of 6)
Trachea N/A heterozygote 0.0% (0 of 6)
Uterus N/A heterozygote 16.67% (1 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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
Anks4btm2a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Anks4btm2a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Anks4btm2a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Anks4btm2a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Anks4btm2a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI

View all 70 images

Anks4btm2a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Anks4btm2a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Anks4btm2a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Anks4btm2a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI
Anks4btm2a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Anks4b 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 Anks4b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... OMIM:619787
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hypodontia, Enamel hypoplasia OMIM:226650
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Taurodontism
Taurodontia OMIM:272700
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ... ORPHA:248
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Heimler Syndrome 2
Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta OMIM:616617
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... ORPHA:1897
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... ORPHA:1811
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Heimler Syndrome 1
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta OMIM:234580
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... ORPHA:1006
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Nail dystrophy OMIM:226700
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail OMIM:601319
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... OMIM:614564
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, M... ORPHA:3253
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Lelis Syndrome
Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Nail... ORPHA:140936
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr... OMIM:612843
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia OMIM:616353
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Nai... ORPHA:69087
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta OMIM:245660
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920

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 Anks4b

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 Anks4b.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Anks4btm2a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Anks4btm2a(EUCOMM)Wtsi PMC6459510
Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nature methods (June 2009) Anks4btm2a(EUCOMM)Wtsi PMC3555078

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
Anks4btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Anks4btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Anks4btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Anks4btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Anks4btm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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