Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 | 50% (1 of 2) |
Aorta | N/A | heterozygote | 100% (2 of 2) |
Blood | N/A | heterozygote | Not available |
Bone marrow | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brainstem | N/A | heterozygote | Not available |
Brown adipose tissue | N/A | heterozygote | 50% (1 of 2) |
Cartilage tissue | N/A | heterozygote | Not available |
Cecum | N/A | heterozygote | 50% (1 of 2) |
Cerebellum | N/A | heterozygote | 100% (2 of 2) |
Cerebral cortex | N/A | heterozygote | Not available |
Chest bone | N/A | heterozygote | Not available |
Colon | N/A | heterozygote | 100% (2 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Duodenum | N/A | heterozygote | 100% (2 of 2) |
Epididymis | N/A | heterozygote | 50% (1 of 2) |
Esophagus | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Gall bladder | N/A | heterozygote | Not available |
Gonadal fat pad | N/A | heterozygote | 0.0% (0 of 2) |
Harderian gland | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | Not available |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
Ileum | N/A | heterozygote | 100% (2 of 2) |
Jejunum | N/A | heterozygote | 100% (2 of 2) |
Kidney | N/A | heterozygote | 100% (2 of 2) |
Large intestine | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 50% (1 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 100% (2 of 2) |
Lymph node | N/A | heterozygote | Not available |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric adipose tissue | N/A | heterozygote | 50% (1 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Olfactory lobe | N/A | heterozygote | 100% (2 of 2) |
Ovary | N/A | heterozygote | 50% (1 of 2) |
Oviduct | N/A | heterozygote | 50% (1 of 2) |
Pancreas | N/A | heterozygote | 100% (2 of 2) |
Parathyroid gland | N/A | heterozygote | 50% (1 of 2) |
Parotid gland | N/A | heterozygote | 100% (2 of 2) |
Penis | N/A | heterozygote | 50% (1 of 2) |
Peripheral nervous system | N/A | heterozygote | Not available |
Peyer's patch | N/A | heterozygote | Not available |
Pituitary gland | N/A | heterozygote | 100% (2 of 2) |
Prostate gland | N/A | heterozygote | 50% (1 of 2) |
Quadriceps | N/A | heterozygote | 50% (1 of 2) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | Not available |
Skin | N/A | heterozygote | 100% (2 of 2) |
Small intestine | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Spleen | N/A | heterozygote | 50% (1 of 2) |
Stomach pyloric region | N/A | heterozygote | Not available |
Stomach | N/A | heterozygote | 100% (2 of 2) |
Striatum | N/A | heterozygote | Not available |
Sublingual gland | N/A | heterozygote | 100% (2 of 2) |
Submandibular gland | N/A | heterozygote | 50% (1 of 2) |
Testis | N/A | heterozygote | 50% (1 of 2) |
Thymus | N/A | heterozygote | 50% (1 of 2) |
Thyroid gland | N/A | heterozygote | 50% (1 of 2) |
Tongue | N/A | heterozygote | 100% (2 of 2) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Trigeminal V nerve | N/A | heterozygote | 100% (2 of 2) |
Urinary bladder | N/A | heterozygote | 100% (2 of 2) |
Uterus | N/A | heterozygote | 50% (1 of 2) |
Vagina | N/A | heterozygote | 50% (1 of 2) |
Vas deferens | N/A | heterozygote | 50% (1 of 2) |
Vascular system | N/A | heterozygote | Not available |
Vesicular gland | N/A | heterozygote | 50% (1 of 2) |
White adipose tissue | N/A | heterozygote | Not available |
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 | |
bone marrow | |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cecum | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
chest bone | |
colon | |
diaphragm | 0.0% |
duodenum | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | |
heart | 0.0% |
hindlimb | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
ileum | 0.0% |
jejunum | |
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% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | |
midbrain | 0.0% |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
stomach pyloric region | 0.0% |
striatum | 0.0% |
sublingual gland | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
tongue | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vagina | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
vesicular gland | Unavailable |
white adipose tissue | 0.0% |
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.
The table below shows human diseases predicted to be associated to Atf6b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Ichthyosis, Congenital, Autosomal Recessive 12 | White scaling skin | OMIM:617320 | |
Peeling Skin Syndrome 5 | Epidermal acanthosis, Scaling skin | OMIM:617115 | |
Peeling Skin Syndrome 2 | Erythema, Scaling skin | OMIM:609796 | |
Peeling Skin Syndrome 3 | Erythema, White scaling skin | OMIM:616265 | |
Amyloidosis, Primary Localized Cutaneous, 1 | Dry skin, Scaling skin | OMIM:105250 | |
Epidermolytic Hyperkeratosis 1 | Epidermal acanthosis, Scaling skin | OMIM:113800 | |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive | Epidermal acanthosis | OMIM:615028 | |
Dowling-Degos Disease 4 | Epidermal acanthosis | OMIM:615696 | |
Ichthyosis Hystrix, Curth-Macklin Type | Scaling skin | OMIM:146590 | |
Keratosis Palmoplantaris Striata Ii | Epidermal acanthosis | OMIM:612908 | |
Ichthyosis, Congenital, Autosomal Recessive 14 | Erythema, Scaling skin | OMIM:617571 | |
Acral Self-Healing Collodion Baby | Erythema, Palmoplantar scaling skin, Lack of skin elasticity | ORPHA:281127 | |
Krt1-Related Diffuse Nonepidermolytic Keratoderma | Erythema, Scaling skin, Palmoplantar scaling skin, Dry skin | ORPHA:530838 | |
Psoriasis 2 | Epidermal acanthosis, Scaling skin | OMIM:602723 | |
Palmoplantar Keratoderma, Nagashima Type | Epidermal acanthosis | OMIM:615598 | |
Acral Peeling Skin Syndrome | Erythema, Excessive wrinkling of palmar skin, Scaling skin | ORPHA:263534 | |
Verrucous Hemangioma | Epidermal acanthosis | ORPHA:464318 | |
Ichthyosis Vulgaris | Dry skin, Absent keratohyalin granules | OMIM:146700 | |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome | Dry skin, Epidermal acanthosis, Cutis laxa, Scaling skin | ORPHA:2269 | |
Erythrokeratodermia Variabilis Et Progressiva 4 | Erythema, Epidermal acanthosis | OMIM:617526 | |
Peeling Skin Syndrome 6 | Dry skin, Scaling skin | OMIM:618084 | |
Peeling Skin Syndrome 4 | Epidermal acanthosis, Scaling skin | OMIM:607936 | |
Idiopathic Localized Lipodystrophy | Erythema, Scaling skin | ORPHA:90158 | |
Ichthyosis, Annular Epidermolytic, 2 | Erythema, Scaling skin | OMIM:620148 | |
White Sponge Nevus 2 | Epidermal acanthosis | OMIM:615785 | |
Aicardi-Goutieres Syndrome 5 | Dry skin, Scaling skin | OMIM:612952 | |
Ichthyosis With Erythrokeratoderma | Erythema, Epidermal acanthosis, Scaling skin | OMIM:620507 | |
Hypotrichosis Simplex Of The Scalp | Epidermal acanthosis, Scaling skin | ORPHA:90368 | |
Familial Reactive Perforating Collagenosis | Abnormal epidermal morphology | ORPHA:79147 | |
Ichthyosis, Congenital, Autosomal Recessive 6 | Dry skin, Epidermal acanthosis, Scaling skin | OMIM:612281 | |
Centrifugal Lipodystrophy | Erythema, Scaling skin | ORPHA:90156 | |
Ichthyosis, Annular Epidermolytic, 1 | Erythema, Scaling skin | OMIM:607602 | |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads | Dry skin, Acantholysis, Epidermal acanthosis, Scaling skin | OMIM:616295 | |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development | Erythema, Scaling skin, Dry skin | OMIM:614457 | |
Ichthyosis, Congenital, Autosomal Recessive 5 | Epidermal acanthosis, White scaling skin | OMIM:604777 | |
Peeling Skin Syndrome 1 | Scaling skin | OMIM:270300 | |
Epidermodysplasia Verruciformis, Susceptibility To, 3 | Epidermal acanthosis | OMIM:618267 | |
Elastosis Perforans Serpiginosa | Epidermal acanthosis, Cutis laxa | ORPHA:79148 | |
Bathing Suit Ichthyosis | Epidermal acanthosis, Scaling skin | ORPHA:100976 | |
Cutaneous Mastocytoma | Erythema, Scaling skin | ORPHA:79455 | |
Pemphigus Foliaceus | Erythema, Acantholysis, Skin vesicle, Scaling skin | ORPHA:79481 | |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency | Psoriasiform lesion, Scaling skin | ORPHA:284426 | |
Atrophoderma Vermiculata | Erythema, Abnormal epidermal morphology | ORPHA:79100 | |
Ectodermal Dysplasia/Skin Fragility Syndrome | Scaling skin | OMIM:604536 | |
Infantile Digital Fibromatosis | Epidermal acanthosis | ORPHA:199267 | |
Bazex Syndrome | Scaling skin | ORPHA:166113 | |
Ichthyosis With Confetti | Scaling skin | OMIM:609165 | |
Mal De Meleda | Erythema, Epidermal acanthosis | ORPHA:87503 | |
Seborrhea-Like Dermatitis With Psoriasiform Elements | Epidermal acanthosis | OMIM:610227 | |
Acrokeratosis Verruciformis | Acantholysis, Epidermal acanthosis | OMIM:101900 | |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma | Dry skin, Scaling skin | OMIM:618373 | |
Palmoplantar Keratoderma, Punctate Type Ia | Epidermal acanthosis | OMIM:148600 | |
Ichthyosis, Congenital, Autosomal Recessive 7 | Epidermal acanthosis | OMIM:615022 | |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse | Epidermal acanthosis | OMIM:615735 | |
Familial Benign Chronic Pemphigus | Erythema, Acantholysis, Skin vesicle | ORPHA:2841 | |
Congenital Disorder Of Glycosylation, Type If | Dry skin, Scaling skin | OMIM:609180 | |
Keratoderma Hereditarium Mutilans With Ichthyosis | Epidermal acanthosis, Scaling skin on fingertip | ORPHA:79395 | |
Acute Generalized Exanthematous Pustulosis | Skin vesicle, Acantholysis, Purpura, Scaling skin | ORPHA:293173 | |
Erythrokeratodermia Variabilis Et Progressiva 1 | Epidermal acanthosis | OMIM:133200 | |
Ichthyosis, Congenital, Autosomal Recessive 8 | Erythema, Epidermal acanthosis | OMIM:613943 | |
Acute Radiation Syndrome | Skin ulcer, Scaling skin | ORPHA:454831 | |
Mpdu1-Cdg | Scaling skin | ORPHA:79323 | |
Diffuse Cutaneous Mastocytosis | Scaling skin | ORPHA:79456 | |
Recon Progeroid Syndrome | Dry skin, Scaling skin | OMIM:620370 | |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma | Acantholysis, Palmoplantar scaling skin, Palmoplantar erythema | OMIM:605676 | |
Erythrokeratodermia Variabilis Et Progressiva 3 | Erythema, Epidermal acanthosis | OMIM:617525 | |
Epidermolytic Palmoplantar Keratoderma | Epidermal acanthosis | ORPHA:2199 | |
Basan Syndrome | Epidermal acanthosis | OMIM:129200 | |
Singleton-Merten Syndrome 2 | Psoriasiform lesion | OMIM:616298 | |
Vulvovaginal Gingival Syndrome | Erythema, Epidermal acanthosis | ORPHA:83453 | |
X-Linked Dominant Chondrodysplasia Punctata | Scaling skin | ORPHA:35173 | |
Woolly Hair-Skin Fragility Syndrome | Acantholysis | OMIM:620415 | |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity | Scaling skin | OMIM:606367 | |
Lipoid Proteinosis Of Urbach And Wiethe | Reduced epidermal extracellular matrix protein 1 protein expression | OMIM:247100 | |
Subacute Cutaneous Lupus Erythematosus | Psoriasiform lesion | ORPHA:163525 | |
Immunodeficiency 58 | Psoriasiform lesion, Scaling skin | OMIM:618131 | |
Graft Versus Host Disease | Scaling skin | ORPHA:39812 | |
Proteus Syndrome | Epidermal acanthosis | OMIM:176920 | |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency | Psoriasiform lesion | ORPHA:169154 | |
Bacterial Toxic-Shock Syndrome | Scaling skin, Ecchymosis | ORPHA:36234 | |
Focal Facial Dermal Dysplasia Type Iv | Abnormal epidermal morphology | ORPHA:398189 | |
Inflammatory Skin And Bowel Disease, Neonatal, 2 | Epidermal acanthosis | OMIM:616069 | |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia | Dry skin, Facial erythema, Scaling skin | ORPHA:1010 | |
Superficial Epidermolytic Ichthyosis | Erythema, Acantholysis | ORPHA:455 | |
Porphyria Cutanea Tarda | Scaling skin | ORPHA:101330 | |
Huriez Syndrome | Epidermal acanthosis | OMIM:181600 | |
Acrokeratosis Verruciformis Of Hopf | Epidermal acanthosis | ORPHA:79151 | |
Kid Syndrome | Epidermal acanthosis, Scaling skin | ORPHA:477 | |
Olmsted Syndrome, X-Linked | Epidermal acanthosis | OMIM:300918 | |
Myoectodermal Gonadal Dysgenesis Syndrome | Dry skin, Scaling skin | OMIM:618419 | |
Neonatal Inflammatory Skin And Bowel Disease | Erythema, Scaling skin | ORPHA:294023 | |
Immunodeficiency, Common Variable, 8, With Autoimmunity | Psoriasiform lesion | OMIM:614700 | |
Riddle Syndrome | Erythema, Scaling skin | ORPHA:420741 | |
Chronic Actinic Dermatitis | Epidermal acanthosis | ORPHA:330064 | |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse | Epidermal acanthosis | OMIM:148700 | |
Congenital Syphilis | Palmoplantar scaling skin, Purpura, Petechiae | ORPHA:499009 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Dry skin, Skin ulcer, Scaling skin | ORPHA:2526 | |
Hypotrichosis And Recurrent Skin Vesicles | Skin vesicle, Epidermal acanthosis | OMIM:613102 | |
Parkes Weber Syndrome | Skin ulcer, Scaling skin | ORPHA:90307 | |
Acrokeratoelastoidosis Of Costa | Epidermal acanthosis | ORPHA:38 | |
Ichthyosis Prematurity Syndrome | Epidermal acanthosis | OMIM:608649 | |
Rat-Bite Fever | Scaling skin | ORPHA:31205 | |
Ectodermal Dysplasia/Short Stature Syndrome | Epidermal acanthosis | OMIM:616029 | |
Ichthyosis, Congenital, Autosomal Recessive 9 | Epidermal acanthosis | OMIM:615023 | |
Psoriasis 14, Pustular | Erythema, Epidermal acanthosis | OMIM:614204 | |
Ichthyosis, Congenital, Autosomal Recessive 1 | Epidermal acanthosis | OMIM:242300 | |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies | Erythema, Dry skin, Facial erythema, Cutis laxa, Scaling skin | OMIM:619503 | |
Cole Disease | Epidermal acanthosis | OMIM:615522 | |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features | Dry skin, Epidermal acanthosis | OMIM:618527 | |
Ectodermal Dysplasia-Skin Fragility Syndrome | Scaling skin | ORPHA:158668 | |
Autoinflammation With Arthritis And Dyskeratosis | Dry skin, Epidermal acanthosis | OMIM:617388 | |
Ichthyosis, Congenital, Autosomal Recessive 2 | Erythema, Epidermal acanthosis | OMIM:242100 | |
Olmsted Syndrome 2 | Epidermal acanthosis | OMIM:619208 | |
Restrictive Dermopathy | Dermal translucency, Scaling skin | ORPHA:1662 | |
Palmoplantar Carcinoma, Multiple Self-Healing | Epidermal acanthosis | OMIM:615225 | |
Woodhouse-Sakati Syndrome | Scaling skin | ORPHA:3464 | |
Restrictive Dermopathy 1 | Scaling skin | OMIM:275210 | |
Psoriasis-Related Juvenile Idiopathic Arthritis | Psoriasiform lesion | ORPHA:85436 | |
Kawasaki Disease | Palmoplantar erythema, Scaling skin on fingertip | ORPHA:2331 | |
Punctate Palmoplantar Keratoderma Type 1 | Abnormal epidermal morphology, Epidermal acanthosis | ORPHA:79501 | |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis | Dry skin, Epidermal acanthosis | OMIM:607626 | |
Ifap Syndrome 1, With Or Without Bresheck Syndrome | Dry skin, Perianal erythema, Scaling skin | OMIM:308205 | |
Odontoonychodermal Dysplasia | Erythema, Epidermal acanthosis, Palmoplantar erythema, Dry skin | OMIM:257980 | |
Pseudoxanthoma Elasticum | Cutis laxa, Civatte bodies | OMIM:264800 | |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis | Epidermal acanthosis | OMIM:612852 | |
Naxos Disease | Acantholysis, Epidermal acanthosis | OMIM:601214 | |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects | Erythema, Epidermal acanthosis | OMIM:308050 | |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome | Epidermal acanthosis | ORPHA:83617 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Atf6btm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice, Tissue |
Atf6btm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
Atf6btm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Atf6btm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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