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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:
Viewing: all phenotypes
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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, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp, Amelogenesis imperfecta ORPHA:79129
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Gene... ORPHA:2222
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, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy alopecia, Enamel hypoplasia OMIM:226650
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Taurodontism
Taurodontia OMIM:272700
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79406
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Trichodental Dysplasia
Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Pili Torti
Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morph... ORPHA:2889
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal hair morphology, Abnormal dental morphology, Premature loss of prim... ORPHA:248
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Heimler Syndrome 2
Leukonychia, Beau's lines, Dental crowding, Amelogenesis imperfecta OMIM:616617
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79405
Eem Syndrome
Carious teeth, Selective tooth agenesis, Sparse body hair, Widely spaced teeth, Abnormal dental m... ORPHA:1897
Steatocystoma Multiplex
Natal tooth OMIM:184500
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu... ORPHA:1811
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Heimler Syndrome 1
Leukonychia, Beau's lines, Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro... ORPHA:251393
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of dental color, Abnormal eyelas... ORPHA:1006
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Nail dystrophy OMIM:226700
Odontomicronychial Dysplasia
Short nail, Premature eruption of permanent teeth OMIM:601319
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Conical incisor, E... OMIM:614564
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Carious teeth, Abnormality of the dentition, Sparse lateral eyeb... ORPHA:3253
Lelis Syndrome
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Hypodontia,... ORPHA:140936
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... OMIM:129400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Carious teeth, Nail dystrophy, Sparse eyelashes, Scarring alopecia of s... OMIM:612843
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Sparse hair, Premature loss of teeth OMIM:616353
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ... ORPHA:50814
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Dystrophic ... ORPHA:69087
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Nail dystrophy OMIM:245660
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... 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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