Gene Summary

leucine rich repeat containing 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 calcium level Lrrc3tm1b(EUCOMM)Hmgu HOM Early adult 5.84×10-06
decreased grip strength Lrrc3tm1b(EUCOMM)Hmgu HOM Early adult 7.88×10-06
hyperactivity Lrrc3tm1b(EUCOMM)Hmgu HOM Early adult 5.92×10-06
increased body length Lrrc3tm1b(EUCOMM)Hmgu HOM   Early adult 2.81×10-05
increased circulating phosphate level Lrrc3tm1b(EUCOMM)Hmgu HOM   Early adult 3.08×10-05
decreased lymphocyte cell number Lrrc3tm1b(EUCOMM)Hmgu HOM Early adult 3.36×10-05

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Lrrc3 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 Lrrc3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia ORPHA:55881
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Schizophrenia 15
Hyperactivity OMIM:613950
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity OMIM:103580
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Lymphopenia OMIM:615401
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Agitation, Hyperphosphatemia, Elevated circulating creatine kinase c... ORPHA:94093
Hyperphosphatemia ORPHA:280062
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hypercalcemia, Anemia ORPHA:436
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Polydipsia, Splenomegaly, Calcinosis OMIM:239200
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... ORPHA:398063
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Obesity ORPHA:251004
Pseudohypoparathyroidism Type 1C
Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinos... ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Obesity ORPHA:457059
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pseudohypoparathyroidism Type 1A
Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinos... ORPHA:79443
Glycine Encephalopathy 1
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Chronic leukemia, Acute leukemia, Mastocytosis, Splenomegaly, Hypercalcemia ORPHA:98292
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, Anemia ORPHA:93325
Hemochromatosis, Type 3
Elevated transferrin saturation, Anemia, Lymphopenia, Increased serum iron, Increased circulating... OMIM:604250
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:280651
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Hyperkalemia, Eosinophilia, Hyponatremia, Hy... ORPHA:199299
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Multiple Myeloma
Anemia, Hyperproteinemia, Tall stature, Splenomegaly, Hypercalcemia, Elevated circulating creatin... ORPHA:29073
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Agitation, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circ... ORPHA:340
Monosomy 13Q34
Hypercalcemia, Obesity ORPHA:96168
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hyperkalemia, Salt craving, ... ORPHA:95409
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia ORPHA:476126
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Leukocytosis, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:210110
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Hepatocellular Carcinoma
Polycythemia, Liver abscess, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocy... ORPHA:88673
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Polydipsia, Hypophosphatemia, Hypokalemia ORPHA:213
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Addison Disease
Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hyperkalemia, Salt craving, ... ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Hypophosphatem... ORPHA:157215
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia, Large for gestational age OMIM:616026
Parathyroid Carcinoma
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia ORPHA:143
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Anemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentr... OMIM:619743
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Hypercalcemia OMIM:171300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocyto... ORPHA:760
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia OMIM:618314
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Osteopetrosis, Autosomal Recessive 1
Anemia, Thrombocytopenia, Pancytopenia, Hypocalcemia, Splenomegaly OMIM:259700
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Polydipsia, Hypocalcemia, Hypocalcemic... ORPHA:411634
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hypophosphatemic Rickets
Periapical tooth abscess, Hypophosphatemia, Hypercalcemia, Tooth abscess ORPHA:437
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Overweight, Elevated circulating creatine kinase concentration, ... ORPHA:26793
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Acanthocytosis, Normochromic anemia, Hypercalcemia ORPHA:97280
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Timothy Syndrome
Hypocalcemia OMIM:601005
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... OMIM:259720
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Multiple Endocrine Neoplasia Type 2
Disproportionate tall stature, Hypercalcemia ORPHA:653
Pearson Syndrome
Hypophosphatemia, Reticulocytosis, Hypoplastic spleen, Anemia, Hyperalaninemia, Neutropenia, Hypo... ORPHA:699
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hypercalcemia ORPHA:97278
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Dysphagia, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Polydipsia, Hypophosphatemia, Hypokalemia ORPHA:411629
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... ORPHA:36234
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypercalcemia ORPHA:97261
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Dysphagia, ... OMIM:219800
Hypercalcemia, Leukopenia, Hemolytic anemia, Anemia, Eosinophilia, Thrombocytopenia, Increased T ... ORPHA:797
Thyrotoxic Periodic Paralysis
Obesity, Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine... ORPHA:79102
Dent Disease 1
Hypophosphatemia OMIM:300009
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly OMIM:235255
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hyperhistidinemia, Hyperactivity ORPHA:2157
Multiple Endocrine Neoplasia Type 1
Proportionate tall stature, Hypercalcemia ORPHA:652
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Williams Syndrome
Abnormal circulating lipid concentration, Overfriendliness, Attention deficit hyperactivity disor... ORPHA:904
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly ORPHA:1655
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Hypophosphatemia OMIM:258480
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Ethylene Glycol Poisoning
Alcoholism, Hypocalcemia, Hyperkalemia ORPHA:31826
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Williams-Beuren Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia, Obesity OMIM:194050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets, Tooth abscess ORPHA:289176
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Anemia, Attention deficit hyperactivity disorder, Hypokal... ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Hypocalcemia, Splenomegaly ORPHA:667
Raine Syndrome
Hypophosphatemia OMIM:259775
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Brain abscess, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Hypo... ORPHA:544482
Sotos Syndrome
Tall stature, Acute lymphoblastic leukemia, Attention deficit hyperactivity disorder, Hypercalcemia ORPHA:821
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Anemia, Elevated circulating creatine kinase concentration, Thrombocy... ORPHA:2785
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Salt craving, Polydipsia, Hypocalcemia, Iron deficiency anemia, Hyp... ORPHA:358
Cartilage-Hair Hypoplasia
Neutropenia, Hypocalcemia, Anemia ORPHA:175
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Apl... ORPHA:83471
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:163979
Hennekam Syndrome
Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
X-Linked Hypophosphatemia
Hypophosphatemia, Tooth abscess ORPHA:89936
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Attention deficit hyperactivity disorder, Thrombocytopenia, Hypocalcemi... ORPHA:567
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absen... OMIM:600802
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Attention deficit hyperactivity disorder, Thrombocytopenia, Hyp... OMIM:188400
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hemolytic anemia, Dysphagia, Hypomagnesemia, Hypocalcemia, Impulsivity OMIM:619503
Charge Syndrome
Dysphagia, Lymphopenia, Hypocalcemia OMIM:214800
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:243800


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 Lrrc3

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 Lrrc3.

There are 3 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) Lrrc36em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lrrc36em1(IMPC)Wtsi PMC6671969
A Milieu Molecule for TGF-β Required for Microglia Function in the Nervous System. Cell (June 2018) Lrrc32tm1(KOMP)Vlcg 29909984

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
Lrrc3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lrrc3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lrrc3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lrrc3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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