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Gene: Lonrf3 MGI:1921615

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Gene Summary

Name:
LON peptidase N-terminal domain and ring finger 3
Synonyms:
4932412G04Rik,  Rnf127,  5730439E01Rik,  A830039N02Rik

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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
increased circulating free fatty acids level Lonrf3tm1a(KOMP)Wtsi HEM Early adult 6.57×10-07
increased circulating magnesium level Lonrf3tm1a(KOMP)Wtsi HEM Early adult 1.28×10-06
increased circulating calcium level Lonrf3tm1a(KOMP)Wtsi HOM Early adult 9.17×10-06

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 N/A hemizygote 33.33% (1 of 3)
Adrenal gland N/A heterozygote 66.67% (2 of 3)
Aorta N/A hemizygote 33.33% (1 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood vessel N/A hemizygote 0.0% (0 of 3)
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A hemizygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A hemizygote 100% (3 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A hemizygote 100% (3 of 3)
Brainstem N/A heterozygote 66.67% (2 of 3)
Brown adipose tissue N/A hemizygote 0.0% (0 of 3)
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A hemizygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A hemizygote 100% (3 of 3)
Cerebellum N/A heterozygote 66.67% (2 of 3)
Cerebral cortex N/A hemizygote 100% (3 of 3)
Cerebral cortex N/A heterozygote 100% (3 of 3)
Eye N/A hemizygote 66.67% (2 of 3)
Eye N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A hemizygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A hemizygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A hemizygote 100% (3 of 3)
Hippocampus N/A heterozygote 100% (3 of 3)
Hypothalamus N/A hemizygote 100% (3 of 3)
Hypothalamus N/A heterozygote 66.67% (2 of 3)
Kidney N/A hemizygote 100% (3 of 3)
Kidney N/A heterozygote 100% (3 of 3)
Large intestine N/A hemizygote 33.33% (1 of 3)
Large intestine N/A heterozygote 33.33% (1 of 3)
Liver N/A hemizygote 66.67% (2 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A hemizygote 66.67% (2 of 3)
Lower urinary tract N/A heterozygote 66.67% (2 of 3)
Lung N/A hemizygote 100% (3 of 3)
Lung N/A heterozygote 100% (3 of 3)
Lymph node N/A hemizygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A hemizygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A hemizygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A hemizygote 100% (3 of 3)
Olfactory lobe N/A heterozygote 100% (3 of 3)
Ovary N/A hemizygote Not available
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A hemizygote Not available
Oviduct N/A heterozygote 100% (3 of 3)
Pancreas N/A hemizygote 33.33% (1 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A hemizygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A hemizygote 100% (3 of 3)
Peripheral nervous system N/A heterozygote 66.67% (2 of 3)
Peyer's patch N/A hemizygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A hemizygote 33.33% (1 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A hemizygote 0.0% (0 of 3)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A hemizygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A hemizygote 33.33% (1 of 3)
Skin N/A heterozygote 33.33% (1 of 3)
Small intestine N/A hemizygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A hemizygote 100% (3 of 3)
Spinal cord N/A heterozygote 33.33% (1 of 3)
Spleen N/A hemizygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A hemizygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A hemizygote 100% (3 of 3)
Striatum N/A heterozygote 66.67% (2 of 3)
Testis N/A hemizygote 100% (3 of 3)
Testis N/A heterozygote Not available
Thymus N/A hemizygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A hemizygote 66.67% (2 of 3)
Thyroid gland N/A heterozygote 66.67% (2 of 3)
Trachea N/A hemizygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A hemizygote Not available
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A hemizygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
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.

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Skull Lateral Orientation

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

View images
X-ray

XRay Images Forepaw

28 Images

View images
DSS Histology

Images

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

28 Images

View images
Anti-nuclear antibody assay

Images

6 Images

View images
Eye Morphology

Images Ophthalmoscopy

3 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Lonrf3tm1a(KOMP)Wtsi
WT, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
WT, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
WT, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
HOM, Female, WTSI
Lonrf3tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 168 images

Lonrf3tm1a(KOMP)Wtsi
HEMI, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HEMI, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
HEMI, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
HEMI, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
HEMI, Male, WTSI

View all 12 images

Lonrf3tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HEMI, Male, WTSI
Lonrf3tm1b(KOMP)Wtsi
abnormal retinal pigmentation, HEMI, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Lonrf3tm1a(KOMP)Wtsi
left eye, HOM, Female, WTSI
Lonrf3tm1b(KOMP)Wtsi
TS20 chorioallantoic placenta, HET, Female, WTSI
Lonrf3tm1b(KOMP)Wtsi
TS20 midbrain, HET, Female, WTSI
Lonrf3tm1a(KOMP)Wtsi
TS20 chorioallantoic placenta, HEMI, Male, WTSI
Lonrf3tm1b(KOMP)Wtsi
WT, Male, WTSI
Lonrf3tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Lonrf3 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 Lonrf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia
Hypercalcemia ORPHA:436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
East Syndrome
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... ORPHA:1578
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia OMIM:612780
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Pheochromocytoma
Hypercalcemia OMIM:171300
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:89938
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... OMIM:241200
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Pearson Syndrome
Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Timothy Syndrome
Hypocalcemia OMIM:601005
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Ppoma
Hypercalcemia ORPHA:97278
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Somatostatinoma
Hypercalcemia ORPHA:97283
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Grfoma
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Glucagonoma
Hypercalcemia ORPHA:97280
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Sarcoidosis
Hypercalcemia ORPHA:797
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Sotos Syndrome
Hypercalcemia ORPHA:821
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Digeorge Syndrome
Hypocalcemia OMIM:188400
Charge Syndrome
Hypocalcemia OMIM:214800
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Lonrf3

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 Lonrf3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Lonrf3tm1a(KOMP)Wtsi Lonrf3tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Lonrf3tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lonrf3tm1a(KOMP)Wtsi Lonrf3tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Lonrf3tm1a(KOMP)Wtsi Lonrf3tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Lonrf3tm1a(KOMP)Wtsi Lonrf3tm1b(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Lonrf3tm41056(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lonrf3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Lonrf3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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