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Gene: Rfk MGI:1914688

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Gene Summary

Name:
riboflavin kinase
Synonyms:
flavokinase,  ATP:riboflavin 5'-phosphotransferase,  0610038L10Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Rfkem1(IMPC)Mbp HOM   E9.5 0.00
single kidney Rfkem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
enlarged testis Rfkem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rfkem1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
small kidney Rfkem1(IMPC)Mbp HET Early adult 0.00
small spleen Rfkem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Rfkem1(IMPC)Mbp HET Early adult 5.90×10-09

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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Gross Morphology Embryo E9.5

Images

1 Images

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Human diseases caused by Rfk 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 Rfk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis OMIM:219050
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hypogonadism, Tes... ORPHA:281090
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper... OMIM:308700
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Unilateral renal agenesis OMIM:206750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Coach Syndrome 1
Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Mu... OMIM:216360
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Partington Syndrome
Macroorchidism ORPHA:94083
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral... OMIM:609757
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Optic atrophy, Cholestasis, ... OMIM:614576
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... OMIM:613680
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... OMIM:617641
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Renal agenesis OMIM:120400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor... ORPHA:562
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Polyembryoma
Macroorchidism, Abnormal peritoneum morphology, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... ORPHA:2578
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Leukemia, Vesicoureteral reflux,... OMIM:619951
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Fragile X Syndrome
Macroorchidism ORPHA:908
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Bone marrow hypocellularity, Unilateral renal agenesis, Neutropenia OMIM:614900
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis OMIM:606408
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ... OMIM:609029
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis, Lymphope... OMIM:616541
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hypogonadism, Infertility, Micropenis ORPHA:96170
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Unilateral renal agenesis ORPHA:1064
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorchidism, Optic atr... OMIM:616737
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp... ORPHA:2237
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula OMIM:608980
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Reduced number of intrah... ORPHA:79284
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Re... ORPHA:464311
Gracile Bone Dysplasia
Aniridia, Micropenis, Hypoplastic spleen, Asplenia OMIM:602361
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Optic atrophy, Irregular menstruation, Hypogonadism, D... OMIM:101800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Jaundice, Macroorchidism,... ORPHA:90790
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate... ORPHA:90324
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ... OMIM:617053
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptor... ORPHA:464306
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hyp... OMIM:601186
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr... ORPHA:95699
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Hepatic steatosis, Penoscrotal hypospadias,... OMIM:270400
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Cockayne Syndrome
Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormal T... ORPHA:221139
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Abnormal optic disc morphology,... ORPHA:96121
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Cryptorchidism... OMIM:620305
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Unilateral renal agenesis OMIM:620024
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the lympha... ORPHA:487796
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... ORPHA:90674
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Bilateral renal age... OMIM:619194
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... OMIM:151100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Recurrent urinary tract infections, Hypospadias, Decreased response to growth... ORPHA:268261
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia OMIM:185070
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Proboscis Lateralis
Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Optic disc colobo... ORPHA:141099
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Thrombocytopenia, Splenomeg... OMIM:188400
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... ORPHA:744
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia,... OMIM:181270
Carney Complex
Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden... ORPHA:1359
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Optic disc coloboma, Unilateral renal agenesis ORPHA:261337
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Renal agenesis, Dysmenorrhea, Abnormal uterine cervix morpho... ORPHA:3411
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Decreased response to growth hormone stimulation test, Unilateral renal age... OMIM:213980
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia, Precocious puberty, Macroorchidism OMIM:619950
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... ORPHA:83628
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h... OMIM:227650
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:308050
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... ORPHA:3027
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney OMIM:617140
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the ute... ORPHA:672
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop... OMIM:600901
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Abnormality of the kidney, Unilateral renal agenesis, Optic nerve hy... ORPHA:508488
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Aspartylglucosaminuria, Splenomegaly ORPHA:93
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Unilateral renal agenesis OMIM:154400
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Decreased response to growth hormone stimulation test, Unilateral renal agenesi... OMIM:619503
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop... OMIM:227645
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal agenesis,... ORPHA:500150
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... OMIM:609049
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, D-2-hydroxyglutaric aciduria, Acute myelomonocytic leukemia, Unilateral renal agenesis ORPHA:99646
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, Urethral a... OMIM:273395
Atelis Syndrome 2
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia OMIM:620185
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Optic atrophy, Erect... ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539

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 Rfk

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 Rfk.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rfktm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rfktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rfktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rfkem1(IMPC)Mbp Exon Deletion Mice, Tissue
Rfktm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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