banner
Genes Phenotypes Help, News, Blog

Gene: Kalrn MGI:2685385

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
kalirin, RhoGEF kinase
Synonyms:
Hapip,  LOC224126,  E530005C20Rik,  2210407G14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Kalrn 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 Kalrn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Left ventricular hypertrop... OMIM:102200
Intellectual Developmental Disorder, Autosomal Recessive 3
Delayed speech and language development, Hyperactivity OMIM:608443
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior ORPHA:436151
Gangliocytoma
Hyperhidrosis, Paresthesia, Adrenocorticotropic hormone excess, Impotence, Decreased female libid... ORPHA:251937
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... ORPHA:300385
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Pituitary Gigantism
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Left ven... ORPHA:99725
X-Linked Acrogigantism
Enlarged pituitary gland, Hyperhidrosis, Increased circulating prolactin concentration, Diabetes ... ORPHA:300373
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1, Elevated circ... OMIM:608747
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Hyperlysinemia, Type I
Delayed speech and language development, Hyperactivity, Cognitive impairment OMIM:238700
Chromosome Xq26.3 Duplication Syndrome
Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma,... OMIM:300942
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... ORPHA:562
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
X-Linked Intellectual Disability, Van Esch Type
Short stature, Impaired social interactions, Decreased testicular size, Type II diabetes mellitus... ORPHA:163976
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Aggressive behavior, Elevated circu... ORPHA:85327
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Primary amenorrhea, Increased variability in muscle fiber diameter, Increased circulating prolact... ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Primary amenorrhea, Increased variability in muscle fiber diameter, Increased circulating prolact... OMIM:617675
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati... ORPHA:2410
Perrault Syndrome 1
Gait ataxia, Short stature, Ataxia, Increased circulating gonadotropin level, Primary amenorrhea,... OMIM:233400
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Somatomammotropinoma
Hyperhidrosis, Increased circulating prolactin concentration, Paresthesia, Impotence, Anterior hy... ORPHA:314769
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism, Short stature, Ataxia, Dystonia, Postnatal growth retardation OMIM:616113
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Shyness, Absence of secondary sex characteristics, Decreased testicular size, Short stature, Decr... ORPHA:163971
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Delayed speech and language development, Absent speech, Impulsivity, Attention def... OMIM:301008
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Weight loss, Increased circulating cortisol level, Increase... ORPHA:913
Bronchial Neuroendocrine Tumor
Weight loss, Increased circulating cortisol level, Increased circulating ACTH level, Increased se... ORPHA:97287
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Short stature, Small for gestational age, Decreased testicular size, Decreased seru... OMIM:300869
Acromegaly
Hyperhidrosis, Paresthesia, Impotence, Anterior hypopituitarism, Macroglossia, Abnormality of the... ORPHA:963
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Delayed... ORPHA:261534
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Obesity, Proportionate short stature, Increase... ORPHA:759
Fibrous Dysplasia Of Bone
Precocious puberty in females, Paresthesia, Hyperthyroidism, Increased circulating cortisol level... ORPHA:249
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97282
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Delayed... ORPHA:99330
Developmental And Epileptic Encephalopathy 104
Delayed speech and language development, Hyperactivity, Agitation OMIM:619970
Perrault Syndrome 4
Gait ataxia, Cognitive impairment, Decreased serum estradiol, Secondary amenorrhea, Premature ova... OMIM:615300
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia, Absent speech, Failure to thrive, Prolonged ... OMIM:616881
Gm2 Gangliosidosis, Ab Variant
Chorea, Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle respo... ORPHA:309246
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Hartnup Disorder
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Ovarian Dysgenesis 4
Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir... OMIM:616185
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis, Exaggerated startle response, Paraspinal muscle hypertrophy, Emoti... ORPHA:3198
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Delayed speech and language development, Agitation OMIM:309548
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Decreased serum estradiol, Infertility, Decreased ser... ORPHA:168563
46,Xx Gonadal Dysgenesis
Decreased fertility, Decreased serum estradiol, Short stature, Secondary amenorrhea, Premature ov... ORPHA:243
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Delayed speech and language development, Agitation ORPHA:100973
Pachydermoperiostosis
Hyperhidrosis, Impaired temperature sensation, Elevated circulating growth hormone concentration ORPHA:2796
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Short stature, Absent speech, Optic nerve hypoplasia, Failu... OMIM:617864
Encephalopathy, Progressive, With Or Without Lipodystrophy
Delayed speech and language development, Hyperactivity, Mental deterioration OMIM:615924
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased muscle mass, Hypogona... OMIM:229070
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Emotional lability OMIM:617028
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness, Agenesis of corpus callosum OMIM:605899
Stiff-Person Syndrome
Hyperhidrosis, Exaggerated startle response, Axial muscle stiffness, Proximal limb muscle stiffne... OMIM:184850
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Hyperhidrosis, Exaggerated startle response, Mul... ORPHA:320406
Landau-Kleffner Syndrome
Hyperactivity, Social and occupational deterioration, Spoken word recognition deficit, Impulsivit... ORPHA:98818
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:617182
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Intellectual Developmental Disorder, Autosomal Dominant 67
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:619927
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Delayed speech and language development, Hyperactivity OMIM:301076
Duodenal Neuroendocrine Tumor
Increased circulating ACTH level, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, E... ORPHA:100076
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Ovarian Dysgenesis 10
Streak ovary, Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary... OMIM:619834
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Multiple jo... ORPHA:157954
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Ovarian Dysgenesis 5
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... OMIM:617690
Immunodeficiency 54
Adrenocorticotropic hormone excess, Short stature, Adrenal insufficiency, Failure to thrive, Intr... OMIM:609981
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:300511
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Impaired social interactions, Delayed speech ... ORPHA:8
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Tay-Sachs Disease
Exaggerated startle response, Memory impairment, Precocious puberty, Quadriceps muscle atrophy, L... ORPHA:845
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Impotence, Decreased serum estradiol, Aplasia of the ovary, Absenc... ORPHA:2232
Aromatic L-Amino Acid Decarboxylase Deficiency
Hyperhidrosis, Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torti... OMIM:608643
Premature Ovarian Failure 6
Streak ovary, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated... OMIM:612310
Meningioma
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... ORPHA:2495
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Delayed speech and language development, Abnormal social behavior, Impulsivity, Ab... ORPHA:101039
Sandhoff Disease
Hyperhidrosis, Hypohidrosis, Exaggerated startle response, Impotence, Macroglossia, Ataxia, Skele... OMIM:268800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Hyperhidrosis, Exaggerated startle response, Flexion contracture, Optic atrophy, Distal amyotroph... OMIM:609541
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Premature Ovarian Failure 8
Streak ovary, Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating lu... OMIM:615723
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Short stature, Elevated circulating luteinizing hor... OMIM:176400
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased body weight, Optic atrophy, Short stature, Delayed speech and langu... ORPHA:96180
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Perrault Syndrome 3
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... OMIM:614129
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Optic atro... ORPHA:54595
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Leydig Cell Hypoplasia
Female hypogonadism, Primary gonadal insufficiency, Testicular gonadoblastoma, Hyoplasia of the L... ORPHA:755
Adrenomyeloneuropathy
Female sexual dysfunction, Memory impairment, Adrenocorticotropic hormone excess, Cognitive impai... ORPHA:139399
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Impaired social interactions, Absent speech, Attention deficit hyperactivity disor... OMIM:610042
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Limb hypertonia, Delayed speech and language developme... OMIM:618056
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, S... OMIM:262600
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Hypergonadotropic hypogonadi... ORPHA:347
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen... OMIM:617442
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
46,Xy Sex Reversal 11
Primary amenorrhea, Absence of pubertal development, Elevated circulating luteinizing hormone lev... OMIM:273250
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response, Absent speech OMIM:620114
Xq21 Microdeletion Syndrome
Gait ataxia, Decreased response to growth hormone stimulation test, Abnormality of the Achilles t... ORPHA:1435
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... ORPHA:79318
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... ORPHA:293987
Myotonic Dystrophy 2
Generalized amyotrophy, Hypogonadism, Type II diabetes mellitus, Weakness of facial musculature, ... OMIM:602668
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Facial hypotonia, Anxiety, Dystonia ORPHA:438216
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Breast aplasia, Eunuchoid habitus, Type I diabetes mellitus, Elevated ... ORPHA:3044
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Primary gonadal insufficiency, Testicular gonadoblastoma, Streak ... ORPHA:251510
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Delayed speech and language development, Absent speech, Receptive language delay, ... ORPHA:163681
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Opti... ORPHA:91350
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Histidinemia
Hyperactivity ORPHA:2157
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Apathy, Dementia, Dystonia OMIM:272750
Plaa-Associated Neurodevelopmental Disorder
Hyperhidrosis, Exaggerated startle response, Contractures of the large joints, Limb hypertonia, O... ORPHA:521426
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia, Absent speech OMIM:618598
Isolated Splenogonadal Fusion
Testicular mass, Bilateral cryptorchidism, Hydrocele testis, Increased circulating gonadotropin l... ORPHA:457083
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Contractures of the large joints, Cognitive impairment, Optic atrop... OMIM:617527
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Decreased fertility, Primary gonad... ORPHA:90796
Aarskog-Scott Syndrome
Short stature, Bilateral cryptorchidism, Decreased serum testosterone concentration, Failure to t... OMIM:305400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Abnormality of the menstrual cycle, Elevated circulatin... OMIM:400044
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Delayed social development, Primary amenorrhea, Postnat... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Delayed social development, Primary amenorrhea, Postnat... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Delayed social development, Primary amenorrhea, Postnat... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Delayed social development, Primary amenorrhea, Postnat... ORPHA:99226
Asparagine Synthetase Deficiency
Failure to thrive, Diaphragmatic eventration, Exaggerated startle response, Limb hypertonia OMIM:615574
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Paresthesia, Weight loss, Hypogona... ORPHA:2905
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Short stature, Bilateral cryptorchidism, Azoospermia, Decreased serum testosteron... ORPHA:1772
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... OMIM:617301
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... ORPHA:90695
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... ORPHA:168558
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate concentration, Elbow fl... ORPHA:95699
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... OMIM:609441
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature OMIM:618367
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Growth delay, Cryptorchidism, Testicular dysgenesis OMIM:608800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Optic atrophy, Calf muscle hypertrophy, Congen... OMIM:253800
Partial Androgen Insensitivity Syndrome
Increased serum estradiol, Abnormal circulating estrogen level, Increased serum testosterone leve... ORPHA:90797
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:95494
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Short stature, Small for gestational age, Elevated circulating luteinizing hormo... OMIM:618419
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Macroglossia, Intrauterine growth retardation ORPHA:79255
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Seckel Syndrome 10
Diabetes mellitus, Acute pancreatitis, Severe short stature, Elevated circulating luteinizing hor... OMIM:617253
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Optic atrophy, Truncal ataxia, Skeletal muscle hypertrophy, Action tremo... ORPHA:3455
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hypothyroidism, Increased circulating prolactin concentrat... ORPHA:438213
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
Testicular Agenesis
Absent testis, Increased circulating gonadotropin level, Vanishing testis, Decreased serum testos... ORPHA:325124
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Short stature, Delayed speech and language development, Hydrocele t... OMIM:619522
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Increased serum serotonin, Primary hypercortisolism, Intestin... ORPHA:100079

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 Kalrn

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 Kalrn.

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

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter