Gene: 2210408I21Rik MGI:1919621

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Gene Summary

Name:
RIKEN cDNA 2210408I21 gene
Synonyms:
N/A

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
impaired glucose tolerance 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 2.64×10-05
small superior vagus ganglion 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased lean body mass 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 2.33×10-08
abnormal kidney morphology 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount 2210408I21Riktm1b(EUCOMM)Wtsi HOM   Early adult 8.71×10-09
decreased bone mineral density 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 3.10×10-17
decreased bone mineral content 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 5.82×10-08
hydrometra 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 2210408I21Rik 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.

The table below shows human diseases associated to 2210408I21Rik by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polydactyly, Postaxial, Type A10
OMIM:618498

The table below shows human diseases predicted to be associated to 2210408I21Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus OMIM:610947
Estrogen Resistance
Osteopenia, Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the u... OMIM:615363
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... OMIM:614837
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Osteoporosis, Hyperinsu... ORPHA:785
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv... ORPHA:432
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Diethylstilbestrol Syndrome
Small for gestational age, Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology... ORPHA:1916
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... ORPHA:168558
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Impaired glucose toleranc... OMIM:137920
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... ORPHA:289548
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... OMIM:146255
Perrault Syndrome 4
Osteoporosis, Obesity, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe ... ORPHA:3109
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate vagina, Uterus didelph... ORPHA:2237
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... ORPHA:90793
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Urethral atresia, ... OMIM:271520
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... ORPHA:83628
Oeis Complex
Omphalocele, Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, f... OMIM:258040
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, ... ORPHA:3464
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Decreased calvarial ossification, Polycystic kidney d... OMIM:619879
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... ORPHA:90794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Optic nerve hypoplasia, Unilateral renal agenesis, Aplasia of the vagina, Aplasi... ORPHA:457284
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... OMIM:614527
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Exstrophy-Epispadias Complex
Omphalocele, Bifid scrotum, Inguinal hernia, Renal insufficiency, Urinary incontinence, Bifid ute... ORPHA:322
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus ORPHA:2736
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Cryptorchidism, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Osteolyti... OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus ORPHA:1521
Cardiac-Urogenital Syndrome
Bifid scrotum, Ambiguous genitalia, Unilateral cryptorchidism, Congenital diaphragmatic hernia, C... OMIM:618280
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Humeroradial synostosis, Aplasia of the uterus ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Vesicoureteral reflux, Horseshoe kidney, Fused cervical vertebrae, Aplasia ... OMIM:274000
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Small for gestational age, Hypo... OMIM:107480
Loeys-Dietz Syndrome
Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Joint hyperflexibility, Ute... ORPHA:60030
Coffin-Siris Syndrome 1
Joint laxity, Inguinal hernia, Hydroureter, Hypospadias, Congenital diaphragmatic hernia, Ectopic... OMIM:135900
Wolf-Hirschhorn Syndrome
Vertebral fusion, Small for gestational age, Hypospadias, Precocious puberty, Cryptorchidism, Abn... OMIM:194190
Okamoto Syndrome
Omphalocele, Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junct... ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Humeroradial synostosis, Elbow flexion contracture, D... OMIM:276820
Hydrolethalus Syndrome 1
Omphalocele, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis OMIM:236680
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Camptodacty... OMIM:256520
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Optic atrophy, Uterine rupture, Failure to thrive ORPHA:649
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Osteoarthritis, Cigarette-paper scars, Cystocele, O... ORPHA:286
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Congenital diaphragmatic hernia, Crypto... OMIM:601803
Polydactyly, Postaxial, Type A10
OMIM:618498

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 2210408I21Rik

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 2210408I21Rik.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Genes (April 2023) 2210408I21Riktm1b(EUCOMM)Wtsi PMC10137575
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A. Genes (July 2022) 2210408I21Riktm1a(EUCOMM)Wtsi PMC9316509
A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly. Molecular syndromology (December 2020) 2210408I21Riktm1b(EUCOMM)Wtsi 33776623
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human genetics (April 2019) 2210408I21Riktm1a(EUCOMM)Wtsi PMC6724712

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MGI Allele Allele Type Produced
2210408I21Riktm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
2210408I21Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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