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Gene: Dnajb12 MGI:1931881

Gene Summary

Name:

DnaJ heat shock protein family (Hsp40) member B12

Synonyms:

mDj10

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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	Allele	Zyg	Life Stage	P Value
abnormal sleep behavior	Dnajb12^{tm1.1(KOMP)Vlcg}	HET	Early adult	2.74×10^-05
increased circulating sodium level	Dnajb12^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.31×10^-05
preweaning lethality, incomplete penetrance	Dnajb12^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal spinal cord morphology	Dnajb12^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
abnormal digit morphology	Dnajb12^{tm1.1(KOMP)Vlcg}	HET	Early adult	8.77×10^-05

Download data as: TSV XLS

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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	Section images	heterozygote	100% (2 of 2)
Aorta	Section images	heterozygote	100% (2 of 2)
Bone marrow	Section images	heterozygote	100% (2 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Brown adipose tissue	Section images	heterozygote	100% (2 of 2)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Cerebral cortex	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Hippocampus	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	100% (2 of 2)
Liver	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Lymph node	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Peripheral nervous system	Section images	heterozygote	100% (2 of 2)
Peyer's patch	Section images	heterozygote	100% (2 of 2)
Pituitary gland	Section images	heterozygote	100% (2 of 2)
Skeletal muscle	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Striatum	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Thymus	Section images	heterozygote	100% (2 of 2)
Thyroid gland	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
White adipose tissue	Section images	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	100% (1 of 1)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	Ambiguous
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	100% (2 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	100% (1 of 1)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	100% (2 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	Ambiguous

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone marrow	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Electroretinography

Cone waveform (pdf format)

4 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electroretinography

Rod waveform (pdf format)

4 Images

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Human diseases caused by Dnajb12 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.

Human diseases associated with Dnajb12 (0 diseases)
Human diseases predicted to be associated with Dnajb12 (123 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajb12 by phenotypic similarity.

Disease	Matching phenotypes	Source
Craniofacial Conodysplasia	Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine...	OMIM:615751
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Hypernatremia	OMIM:615508
Webb-Dattani Syndrome	Hypernatremia, Hip dislocation	OMIM:615926
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Chronic Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Solitary Bone Cyst	Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ...	ORPHA:83468
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ...	ORPHA:3008
Nephrogenic Diabetes Insipidus	Hypernatremia	ORPHA:223
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Hartsfield Syndrome	Syndactyly, Ectrodactyly, Hypernatremia	OMIM:615465
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met...	OMIM:307800
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Narcolepsy 3	Narcolepsy	OMIM:609039
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Congenital Isolated Acth Deficiency	Hyperkalemia, Hyponatremia	ORPHA:199296
Alg8-Cdg	Brachydactyly, Camptodactyly, Talipes equinovarus, Hyponatremia	ORPHA:79325
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Hereditary Coproporphyria	Abnormal circulating porphyrin concentration, Proximal muscle weakness in upper limbs, Hyponatremia	ORPHA:79273
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co...	OMIM:267700
Narcolepsy 1	Narcolepsy	OMIM:161400
Brachyolmia Type 3	Short femoral neck, Clinodactyly, Proximal femoral metaphyseal irregularity, Spinal cord compress...	OMIM:113500
Mirage Syndrome	Radial club hand, Hyperkalemia, Overlapping fingers, Rocker bottom foot, Hyponatremia, Talipes eq...	OMIM:617053
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia	OMIM:613845
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:171876
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:214700
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Alg12-Cdg	Hyponatremia, Short long bone, Ulnar deviation of the wrist, Camptodactyly, Clinodactyly of the 5...	ORPHA:79324
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,...	ORPHA:100924
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia, Hypoalbuminemia	ORPHA:1667
Snakebite Envenomation	Hyponatremia	ORPHA:449285
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Narcolepsy 7	Narcolepsy	OMIM:614250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Triceps weakness, Abnormal spinal cord morphology, Ab...	ORPHA:99947
Cholera	Palmoplantar cutis laxa, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology, Acral ulceration	ORPHA:139578
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat...	OMIM:603553
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:613090
Japanese Encephalitis	Distal upper limb muscle weakness, Paucity of anterior horn motor neurons, Elbow flexion contract...	ORPHA:79139
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Abnormal long bone morphology, Hypophosphatemia, Hypokalemia, Hyponatremia, ...	ORPHA:411634
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Epiphyseal dysplasia, Congenital hip dislocation, Hyponatremia, Hypocalc...	OMIM:617913
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Renal Hypoplasia, Bilateral	Hyperkalemia, Hyponatremia	ORPHA:97362
Porphyria Variegata	Abnormal circulating porphyrin concentration, Proximal muscle weakness in upper limbs, Hyponatremia	ORPHA:79473
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Infant Botulism	Hyponatremia	ORPHA:178478
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia	ORPHA:199299
Necrotizing Enterocolitis	Hyponatremia	ORPHA:391673
Legionnaires Disease	Hyponatremia	ORPHA:549
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:90791
Whipple Disease	Hyponatremia	ORPHA:3452
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia	ORPHA:361
Holoprosencephaly	Spinal dysraphism, Spinal cord tumor, Hand polydactyly, Brachydactyly, Hyponatremia	ORPHA:2162
Multiple Osteochondromas	Coxa valga, Abnormal carpal morphology, Syringomyelia, Tethered cord, Genu valgum, Abnormal hand ...	ORPHA:321
Acute Adrenal Insufficiency	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:95409
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia	ORPHA:90790
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hypoproteinemia, Atrophy of the spinal cord, Hypona...	ORPHA:167
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Genu valgum, Hypophosphatemia, Decreased plasma carnitine, Hypokalem...	OMIM:219800
Adenohypophysitis	Hyponatremia	ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo...	ORPHA:90038
Panhypophysitis	Hyponatremia	ORPHA:95513
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Hyponatremia	ORPHA:79276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperkalemia, Narcolepsy, Hyperlipidemia, Brachydactyly, Hyponatremia	ORPHA:293987
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:602522
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia	ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:610505
Shigellosis	Abnormal blood ion concentration, Hyponatremia	ORPHA:810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyperkalemia, Hyponatremia	ORPHA:293978
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Hyponatremia, Hypokalemia, Hypophosphatemia, Hip dislocation, Hypercholesterolemia, ...	ORPHA:534
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ...	ORPHA:168558
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Bartter Syndrome Type 4	Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia	ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Addison Disease	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ...	ORPHA:289548
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia	ORPHA:275761
Sheehan Syndrome	Hyponatremia	ORPHA:91355
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Humeroradial synostosis, Joint contracture of the hand, Decreased circulating ren...	OMIM:201750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature fusion of the radial epiphyseal plates, Hypochloremia, Hyperkalemia, Hyponatremia	ORPHA:90794
Liver Disease, Severe Congenital	Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al...	OMIM:619991
Autosomal Recessive Polycystic Kidney Disease	Increased serum bile acid concentration, Hyponatremia	ORPHA:731
Limb Body Wall Complex	Duplication of hand bones, Forearm reduction defects, Cutaneous finger syndactyly, Spina bifida, ...	ORPHA:2369
Adrenomyeloneuropathy	Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Abnormal...	ORPHA:139399
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy, Abnormal circulating fatty-acid concentration	ORPHA:139396
African Trypanosomiasis	Narcolepsy, Myelitis, Myelopathy	ORPHA:3385
Niemann-Pick Disease Type C	Narcolepsy	ORPHA:646
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Mosaic Trisomy 20	Abnormal spinal cord morphology, Clinodactyly, Limited pronation/supination of forearm, Down-slop...	ORPHA:1724
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
Tetrasomy 9P	Small hand, Small toe, Abnormal spinal cord morphology, Clinodactyly of the 5th finger, Bilateral...	ORPHA:3310
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology	ORPHA:68
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390

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 Dnajb12

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Dnajb12.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Dnajb12^{tm1.1(KOMP)Vlcg}	PMC5503261

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MGI Allele	Allele Type	Produced
Dnajb12^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Dnajb12^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Dnajb12^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dnajb12^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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Gene: Dnajb12 MGI:1931881

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Adult LacZ

X-ray

Combined SHIRPA and Dysmorphology

Eye Morphology

Embryo LacZ

Sleep Wake

X-ray

Eye Morphology

Electroretinography

Auditory Brain Stem Response

Electroretinography

Human diseases caused by Dnajb12 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data