Gene Summary

Name:
leucine rich repeat containing 41
Synonyms:
MUF1,  D630045E04Rik,  D730026A16Rik

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 alkaline phosphatase level Lrrc41em1(IMPC)J HOM Early adult 9.30×10-05
increased circulating glucose level Lrrc41em1(IMPC)J HOM Early adult 2.42×10-05
increased startle reflex Lrrc41em1(IMPC)J HOM Early adult 1.49×10-09
increased lean body mass Lrrc41em1(IMPC)J HOM Early adult 5.16×10-05
increased circulating calcium level Lrrc41em1(IMPC)J HOM Early adult 5.63×10-05
hyperactivity Lrrc41em1(IMPC)J HOM Early adult 2.25×10-05
decreased vertical activity Lrrc41em1(IMPC)J HOM   Early adult 5.40×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

5 Images

Human diseases caused by Lrrc41 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 Lrrc41 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... ORPHA:94086
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Adamantinoma
Hypercalcemia ORPHA:55881
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy OMIM:605899
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase OMIM:604484
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia OMIM:615924
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ... ORPHA:476126
Non-Functioning Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:94080
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Hyperuricemia, Ty... ORPHA:199299
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure t... ORPHA:2089
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia, Infantile
Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Inc... ORPHA:95409
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia, Polydipsia, Failure to thrive OMIM:239200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Glutaric Acidemia Type 3
Impulsivity, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentr... ORPHA:35706
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Addison Disease
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Inc... ORPHA:85138
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Obesity ORPHA:96168
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia OMIM:618440
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:276621
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... OMIM:261600
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Essential Fructosuria
Hyperglycemia ORPHA:2056
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures ORPHA:36913
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, Dystonia ORPHA:500180
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Gait a... ORPHA:363400
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking ORPHA:3198
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Fibrous Dysplasia Of Bone
Diabetes mellitus, Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia ORPHA:249
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plasma ... ORPHA:3008
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:29072
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... OMIM:601678
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Athetosis, Dystonia... ORPHA:52503
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Vipoma
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Hypokalemia ORPHA:97282
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy ORPHA:173
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting... ORPHA:2298
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss ORPHA:97283
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Tip-toe gait, Hypocalcemia, Lethargy, Hypoketotic hypoglycemia ORPHA:746
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Parathyroid Carcinoma
Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:143
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures OMIM:264700
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Hypocalcemia, Lethargy, Failure to thrive OMIM:607143
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... ORPHA:94093
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... OMIM:617600
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral avers... ORPHA:134
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Hyperglycemia, Obesity OMIM:619737
Pheochromocytoma
Hypercalcemia OMIM:171300
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Glucagonoma
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss ORPHA:97280
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:99880
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Ppoma
Hypercalcemia, Anorexia, Weight loss ORPHA:97278
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abnormal glucose homeostasis, Lethargy, Hyperglycemia ORPHA:391673
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Ataxia, Hypocalcemia, Difficulty walking OMIM:618476
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94089
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia, Weight loss ORPHA:913
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
Multiple Endocrine Neoplasia Type 4
Fasting hyperinsulinemia, Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia ORPHA:276152
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Grfoma
Hypercalcemia, Anorexia, Weight loss ORPHA:97261
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures ORPHA:289157
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Celiac Disease, Susceptibility To, 1
Ataxia, Weight loss, Hypocalcemia, Type I diabetes mellitus, Failure to thrive OMIM:212750
Pseudohypoparathyroidism Type 1C
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Po... ORPHA:79444
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:615453
Williams Syndrome
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Failure to thrive in i... ORPHA:904
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Pseudohypoparathyroidism Type 1A
Calcinosis, Obesity, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryn... ORPHA:79443
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysphagia, Dysdiadochokinesis, ... OMIM:610217
Multiple Endocrine Neoplasia Type 1
Lethargy, Hypercalcemia, Anorexia, Weight loss ORPHA:652
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Postprandial hyperglycemia, Hyp... OMIM:246200
Gitelman Syndrome
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypoka... ORPHA:358
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Obesity, Glucose intolerance, Gai... OMIM:194050
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Autosomal Dominant Hypocalcemia
Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... ORPHA:845
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Abdominal obesity OMIM:615954
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia OMIM:127000
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Pearson Syndrome
Diabetes mellitus, Ataxia, Small for gestational age, Hypomagnesemia, Dysphagia, Glycosuria, Hypo... ORPHA:699
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Hyp... ORPHA:79102
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Addictive alcohol use ORPHA:90065
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Failure to thrive OMIM:617864
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Sotos Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Neonatal hy... ORPHA:821
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Dysphagia, Choreoathetosis, Bradykinesia, B... OMIM:234200
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Obesity OMIM:103580
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Sarcoidosis
Hypercalcemia, Weight loss ORPHA:797
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypokale... ORPHA:466677
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirub... OMIM:613658
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior OMIM:192430
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia ORPHA:175
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Polydipsia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Self-injuri... ORPHA:293987
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria, Hyperglycemia, Fai... ORPHA:99885
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Hypoglycemia, Small for gestational age, Tremor, Hyperammonemia, Dysmetria, Dys... OMIM:220111
Autosomal Recessive Malignant Osteopetrosis
Tremor, Hypocalcemia, Hypophosphatemia ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Failure to thrive, Elevated circulating creatine kinase concentration ORPHA:2785
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Dysphagia OMIM:617527
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... ORPHA:508
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
22Q11.2 Deletion Syndrome
Failure to thrive, Hypocalcemia, Attention deficit hyperactivity disorder, Obesity ORPHA:567
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive OMIM:124000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Impulsivity, Bruxism, Dysphagia, Tip-toe gait, Falls, Hypocalcemia, Stereotypic... OMIM:619503
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Atypical Werner Syndrome
Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, ... ORPHA:79474
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder, Obesity OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Decreased serum iron, Inability to walk, Dysphagi... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... OMIM:243800
Charge Syndrome
Self-mutilation, Hypocalcemia, Dysphagia OMIM:214800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522

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 Lrrc41

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 Lrrc41.

No publications found that use IMPC mice or data for Lrrc41.

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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
Lrrc41tm39148(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lrrc41em1(IMPC)J Exon Deletion Mice

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