Gene Summary

Name:
MTSS I-BAR domain containing 2
Synonyms:
ABBA,  Mtss1l

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
increased circulating glucose level Mtss2tm1a(KOMP)Wtsi HOM Early adult 2.16×10-05
increased circulating phosphate level Mtss2tm1a(KOMP)Wtsi HOM   Early adult 1.04×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Human diseases caused by Mtss2 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 Mtss2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Glycosuria, Hypophosphatemic rickets OMIM:618913
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes mellitus... ORPHA:2088
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:227810
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cystinosis
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia ORPHA:213
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... ORPHA:3337
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Fructose Intolerance, Hereditary
Hypoglycemia, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricosuria, Hyperuricemia, B... OMIM:229600
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Dent Disease 1
Hypophosphatemia, Glycosuria OMIM:300009
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Glycosuria, Abnormal blood ion concentration ORPHA:411629
Donohue Syndrome
Hyperglycemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia OMIM:246200
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Hyperglycemia, Elevated transferrin saturation, Increased circul... ORPHA:465508
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Opsismodysplasia
Hypophosphatemia OMIM:258480
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased level of L-glu... ORPHA:3008
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Diabetes mellitus ORPHA:249
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Diabetes mellitus, Hy... ORPHA:699
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Raine Syndrome
Hypophosphatemia OMIM:259775
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia ORPHA:134
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... ORPHA:769
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyperglycemia, Hype... OMIM:151660
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Glycosuria, Hyperuric... ORPHA:1652
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Leprechaunism
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Recurrent infantile hypoglycemia, Increase... ORPHA:508
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Increased ... ORPHA:466677
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia ORPHA:293987
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077

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 Mtss2

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 Mtss2.

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

Title Journal IMPC Allele PubMed ID
Revisiting I-BAR Proteins at Central Synapses. Frontiers in neural circuits (December 2021) Mtss2tm1a(KOMP)Wtsi PMC8716821

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MGI Allele Allele Type Produced
Mtss2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mtss2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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