Gene Summary

Name:
TBC/LysM associated domain containing 2
Synonyms:
Gm1332,  LOC383766

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased circulating calcium level Tldc2em1(IMPC)J HOM   Early adult 2.62×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Tldc2 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 Tldc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Timothy Syndrome
Hypocalcemia OMIM:601005
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypophosphatasia
Hypercalcemia ORPHA:436
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Hypocalcemia, Hypermagnesemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:95409
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Mastocytosis
Hypercalcemia ORPHA:98292
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Pheochromocytoma
Hypercalcemia OMIM:171300
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:85138
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Digeorge Syndrome
Hypocalcemia OMIM:188400
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Charge Syndrome
Hypocalcemia OMIM:214800
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Ppoma
Hypercalcemia ORPHA:97278
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... ORPHA:904
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821

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 Tldc2

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 Tldc2.

No publications found that use IMPC mice or data for Tldc2.

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MGI Allele Allele Type Produced
Tldc2em1(IMPC)J Exon Deletion Mice
Tldc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tldc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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