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Gene: Hsd3b7 MGI:2141879

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Synonyms:
N/A

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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.

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 Hsd3b7 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.

The table below shows human diseases associated to Hsd3b7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301

The table below shows human diseases predicted to be associated to Hsd3b7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:232700
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin OMIM:113800
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Cutaneous Mastocytoma
Diarrhea, Erythema, Vomiting, Scaling skin, Nausea ORPHA:79455
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Epidermal acanthosis, Scaling skin, Cutis laxa ORPHA:2269
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Erythema, Dry skin, Scaling skin OMIM:614457
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Abnormality of th... ORPHA:79456
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Peeling Skin Syndrome 1
Short stature, Scaling skin OMIM:270300
Peeling Skin Syndrome 4
Epidermal acanthosis, Scaling skin OMIM:607936
Bathing Suit Ichthyosis
Palmoplantar scaling skin, Epidermal acanthosis, Scaling skin ORPHA:100976
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Psoriasiform lesion, Scaling skin ORPHA:284426
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Acrokeratosis Verruciformis
Epidermal acanthosis OMIM:101900
Ichthyosis With Confetti
Short stature, Scaling skin OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Epidermal acanthosis, Scaling skin OMIM:612281
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Diarrhea, Chronic hepatitis, Hepatosplenomegaly, Gastroi... ORPHA:39812
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Scaling skin ORPHA:90368
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology ORPHA:79147
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, Epidermal acanthosis, Scaling skin, Acantholysis OMIM:616295
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Acute Radiation Syndrome
Diarrhea, Vomiting, Scaling skin, Skin ulcer ORPHA:454831
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Acantholysis, Cholestasis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin, Acantholysis ORPHA:79481
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Bazex Syndrome
Scaling skin ORPHA:166113
Recon Progeroid Syndrome
Growth delay, Dry skin, Short stature, Scaling skin OMIM:620370
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa ORPHA:79148
Immunodeficiency 58
Psoriasiform lesion, Short stature, Chronic diarrhea, Colitis, Scaling skin, Esophagitis, Dysphag... OMIM:618131
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Scaling skin ORPHA:35173
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, White scaling skin OMIM:604777
Bacterial Toxic-Shock Syndrome
Peritonitis, Diarrhea, Hepatitis, Vomiting, Scaling skin, Ecchymosis, Nausea ORPHA:36234
Mal De Meleda
Erythema, Epidermal acanthosis ORPHA:87503
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin OMIM:618373
Mpdu1-Cdg
Scaling skin ORPHA:79323
Singleton-Merten Syndrome 2
Psoriasiform lesion, Short stature OMIM:616298
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Scaling skin, Hepatosplenomegaly OMIM:606367
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
Woodhouse-Sakati Syndrome
Growth delay, Hyperlipidemia, Scaling skin, Delayed puberty ORPHA:3464
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, Psoriasiform lesion, Hepatosplenomegaly ORPHA:169154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Psoriasiform lesion, Splenomegaly, Chronic diarrhea, Growth delay, Inflammati... OMIM:614700
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar erythema, Palmoplantar scaling skin, Acantholysis OMIM:605676
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Secretory diarrhea, Vomiting OMIM:616069
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Vomiting, Abnormal circulating cor... ORPHA:556037
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Epidermal acanthosis, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Scl... OMIM:607626
Riddle Syndrome
Diarrhea, Erythema, Short stature, Scaling skin ORPHA:420741
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Dry skin, Short stature, Scaling skin OMIM:618419
Rat-Bite Fever
Diarrhea, Vomiting, Scaling skin, Pancreatitis, Parotitis ORPHA:31205
Kid Syndrome
Postnatal growth retardation, Epidermal acanthosis, Scaling skin ORPHA:477
Proteus Syndrome
Splenomegaly, Epidermal acanthosis OMIM:176920
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Vomiting, Abnormal circulating cor... ORPHA:556030
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion ORPHA:163525
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Scaling skin, Bloody diarrhea ORPHA:294023
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Scaling skin, Facial erythema ORPHA:1010
Vulvovaginal Gingival Syndrome
Erythema, Epidermal acanthosis ORPHA:83453
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Basan Syndrome
Epidermal acanthosis OMIM:129200
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Epidermal acanthosis, Splenomegaly, Growth delay, Dry skin OMIM:617388
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis OMIM:613943
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea, Short stature, Scaling skin ORPHA:158668
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Short stature, Dysphagia OMIM:616029
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis OMIM:617525
Restrictive Dermopathy 1
Neonatal death, Intrauterine growth retardation, Stillbirth, Scaling skin OMIM:275210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Erythema, Cholestasis, Cutis laxa, Facial erythema, Hepatosplenomegaly, Chro... OMIM:619503
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis OMIM:613102
Psoriasis 14, Pustular
Erythema, Epidermal acanthosis, Cholangitis OMIM:614204
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Dry skin, Epidermal acanthosis OMIM:618527
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Erythema, Epidermal acanthosis OMIM:242100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Short stature, Growth delay, Scaling skin, Neonatal death, Dry skin OMIM:308205
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema, Acantholysis ORPHA:2841
Restrictive Dermopathy
Intrauterine growth retardation, Scaling skin, Dermal translucency ORPHA:1662
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Olmsted Syndrome, X-Linked
Epidermal acanthosis OMIM:300918
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis OMIM:148700
Ichthyosis Prematurity Syndrome
Epidermal acanthosis OMIM:608649
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Epidermal acanthosis, Stomatitis OMIM:612852
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion ORPHA:85436
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis OMIM:242300
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis ORPHA:38
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Acantholysis ORPHA:79151
Cole Disease
Epidermal acanthosis OMIM:615522
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Civatte bodies, Cutis laxa OMIM:264800
Huriez Syndrome
Epidermal acanthosis OMIM:181600
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Abnormal epidermal morphology, Epidermal acanthosis ORPHA:79501
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis OMIM:615225
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Short stature, Erythema, Mild intrauterine growth retardation, Stillbirth OMIM:308050
Odontoonychodermal Dysplasia
Palmoplantar erythema, Erythema, Dry skin, Epidermal acanthosis OMIM:257980
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Olmsted Syndrome 2
Epidermal acanthosis OMIM:619208
Naxos Disease
Epidermal acanthosis, Acantholysis OMIM:601214
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Epidermal acanthosis, Postnatal growth retardation, Biliary hyperplasia, Intrauteri... ORPHA:83617
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301

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 Hsd3b7

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 Hsd3b7.

No publications found that use IMPC mice or data for Hsd3b7.

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MGI Allele Allele Type Produced
Hsd3b7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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