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Gene: Cnbd2 MGI:1918123

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cyclic nucleotide binding domain containing 2

Synonyms:

5430421B09Rik, 4921517L17Rik

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 Cnbd2 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.

Human diseases associated with Cnbd2 (0 diseases)
Human diseases predicted to be associated with Cnbd2 (260 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cnbd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma...	ORPHA:1646
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure 57	Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i...	OMIM:619528
Spermatogenic Failure 50	Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility	OMIM:619145
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc...	OMIM:617960
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Spermatogenic Failure 63	Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility	OMIM:619689
Isochromosomy Yq	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp...	ORPHA:98798
Spermatogenic Failure 72	Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618153
Spermatogenic Failure 65	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619712
Spermatogenic Failure 37	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:617965
Spermatogenic Failure 33	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618152
Spermatogenic Failure 56	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619515
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf...	OMIM:618751
Spermatogenic Failure 45	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:617592
Spermatogenic Failure 49	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619144
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly...	OMIM:301059
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe...	ORPHA:529970
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper...	OMIM:619585
Spermatogenic Failure 48	Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility	OMIM:619108
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil...	OMIM:618664
Spermatogenic Failure 76	Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli...	OMIM:620084
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:620222
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligospermia	OMIM:619828
Spermatogenic Failure 54	Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone...	OMIM:619379
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia	OMIM:619102
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc...	ORPHA:399805
Spermatogenic Failure 39	Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit...	OMIM:618643
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 42	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal...	OMIM:618745
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:614822
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia	OMIM:620196
Spermatogenic Failure 51	Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh...	OMIM:619177
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia	OMIM:612997
Spermatogenic Failure, X-Linked, 2	Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 41	Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia	OMIM:618670
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618341
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella	OMIM:617593
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619696
Spermatogenic Failure 44	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:619044
Spermatogenic Failure 16	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617644
Spermatogenic Failure 24	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce...	OMIM:617959
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho...	ORPHA:399808
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 77	Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll...	OMIM:620103
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility	OMIM:261550
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 3	Reduced sperm motility, Male infertility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Reduced sperm motility, Male infertility	OMIM:400042
Spermatogenic Failure 55	Reduced sperm motility, Male infertility	OMIM:619380
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Testicular atrophy	OMIM:613909
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 38	Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo...	OMIM:618433
Spermatogenic Failure 5	Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility	OMIM:243060
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Ring Chromosome Y Syndrome	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m...	ORPHA:261529
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu...	OMIM:229070
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,...	OMIM:108420
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi...	OMIM:618086
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob...	OMIM:616950
Spermatogenic Failure 17	Male infertility	OMIM:617214
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ...	OMIM:614840
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia...	ORPHA:52901
Premature Ovarian Failure 10	Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen...	OMIM:612885
Young Syndrome	Azoospermia	OMIM:279000
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility	ORPHA:48
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty	ORPHA:3000
Androgen Insensitivity, Partial	Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ...	OMIM:312300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de...	OMIM:614837
Testicular Regression Syndrome	Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig...	ORPHA:983
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:615842
46,Xx Testicular Difference Of Sex Development	Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia	ORPHA:393
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Azoospermia, Male infertility	OMIM:277180
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni...	OMIM:228300
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease...	OMIM:614897
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia	OMIM:615703
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ...	ORPHA:488191
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Spermatogenic Failure, X-Linked, 4	Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M...	OMIM:301077
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Hemochromatosis, Type 2A	Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism	OMIM:602390
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad...	OMIM:146110
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Adrenal Hypoplasia, Congenital	Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea...	OMIM:300200
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ...	OMIM:308700
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer...	ORPHA:90797
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Respiratory insufficiency due to defective ciliary clearance, Absent outer dynein...	OMIM:614874
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ...	ORPHA:432
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati...	ORPHA:251510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus	ORPHA:2578
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Reduced respiratory ciliary beating frequency, Absent central m...	OMIM:617091
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Ciliary Dyskinesia, Primary, 40	Infertility, Absent outer dynein arms, Azoospermia, Reduced respiratory ciliary beating frequency	OMIM:618300
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase...	ORPHA:8
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility...	ORPHA:320391
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility, Ciliary dyskinesia	OMIM:619436
Ciliary Dyskinesia, Primary, 26	Respiratory insufficiency due to defective ciliary clearance, Infertility, Absent outer dynein ar...	OMIM:615500
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test...	ORPHA:280679
49,Xyyyy Syndrome	Decreased testicular size, External genital hypoplasia, Primary gonadal insufficiency, Abnormalit...	ORPHA:99330
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of...	ORPHA:754
Maternal Uniparental Disomy Of Chromosome X	Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for external genitalia o...	ORPHA:261519
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Ciliary dyskinesia, Coiled sperm flagella, Male infertility, Short sperm flagella	OMIM:620197
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ...	ORPHA:753
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ...	ORPHA:90791
48,Xyyy Syndrome	Primary gonadal insufficiency, Male hypogonadism, Azoospermia	ORPHA:99329
Hemochromatosis, Type 1	Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility, Ciliary dyskinesia, Immotile cilia, Abnormal central microtubular pair mo...	OMIM:612649
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Abnormal ciliary motility, Immotile s...	OMIM:613807
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Male infertility, Absent inner and outer dynein arms	OMIM:618801
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis	ORPHA:3055
46,Xx Sex Reversal 2	Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v...	OMIM:278850
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Precocious Puberty, Male-Limited	Precocious puberty in males, Decreased testicular size	OMIM:176410
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote...	OMIM:400045
Ring Chromosome 21 Syndrome	Infertility, Azoospermia, Diabetes insipidus, Amenorrhea	ORPHA:1445
Hypogonadism-Cataract Syndrome	Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona...	OMIM:240950
Ciliary Dyskinesia, Primary, 12	Immotile sperm, Reduced sperm motility, Ciliary dyskinesia, Abnormal central microtubular pair mo...	OMIM:612650
48,Xxyy Syndrome	Decreased testicular size, Cryptorchidism, Hypoplasia of penis, Infertility, Hypergonadotropic hy...	ORPHA:10
Ciliary Dyskinesia, Primary, 22	Respiratory insufficiency due to defective ciliary clearance, Infertility, Immotile cilia, Reduce...	OMIM:615444
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp...	ORPHA:752
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Hypogonadism	OMIM:615234
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon...	OMIM:308750
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
49,Xxxyy Syndrome	Decreased testicular size, Micropenis, External genital hypoplasia, Ambiguous genitalia, Primary ...	ORPHA:261534
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati...	OMIM:300845
Ciliary Dyskinesia, Primary, 29	Infertility, Ciliary dyskinesia	OMIM:615872
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Diabetes mellitus, Abs...	OMIM:610628
Ciliary Dyskinesia, Primary, 13	Infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile cilia, Ciliary dyskinesia	OMIM:613193
Complete Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab...	ORPHA:99429
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ...	OMIM:614841
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ...	OMIM:616030
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada...	ORPHA:2232
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia, Ciliary ...	OMIM:613808
Leydig Cell Hypoplasia	Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ...	ORPHA:755
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc...	ORPHA:90793
Familial Glucocorticoid Deficiency	Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto...	ORPHA:361
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto...	ORPHA:1772
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland	OMIM:614880
Functioning Gonadotropic Adenoma	Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot...	ORPHA:91348
Ciliary Dyskinesia, Primary, 19	Respiratory insufficiency due to defective ciliary clearance, Male infertility, Immotile cilia, C...	OMIM:614935
48,Xxxy Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Hypoplasia of penis, Infertility, Azoosp...	ORPHA:96263
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno...	ORPHA:1916
46,Xx Ovotesticular Difference Of Sex Development	Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic...	ORPHA:2138
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility, Ciliary dys...	OMIM:608647
49,Xxxxy Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Hypoplasia of penis, Infertility, Azoosp...	ORPHA:96264
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Prolactin Deficiency With Obesity And Enlarged Testes	Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligospermia	OMIM:314300
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility, Ciliary dyskinesia	OMIM:612444
Ciliary Dyskinesia, Primary, 24	Infertility, Ciliary dyskinesia, Immotile cilia	OMIM:615481
46,Xy Sex Reversal 10	Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G...	OMIM:616425
8P11.2 Deletion Syndrome	Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-p...	ORPHA:251066
Partington Syndrome	Macroorchidism	ORPHA:94083
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Ciliary Dyskinesia, Primary, 32	Infertility, Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial spokes	OMIM:616481
Polyembryoma	Increased serum testosterone level, Isosexual precocious puberty, Irregular menstruation, Abnorma...	ORPHA:180229
Non-Functioning Pituitary Adenoma	Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o...	ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Classic Galactosemia	Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,...	ORPHA:79239
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Aromatase Deficiency	Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d...	ORPHA:91
H Syndrome	Delayed puberty, Decreased testicular size, Micropenis, Hypogonadism, Diabetes mellitus, Azoosper...	ORPHA:168569
Lead Poisoning	Abnormal sperm morphology, Delayed puberty, Decreased male libido, Decreased circulating osteocal...	ORPHA:330015
Ciliary Dyskinesia, Primary, 2	Infertility, Immotile cilia, Ciliary dyskinesia, Absent inner and outer dynein arms	OMIM:606763
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Ciliary Dyskinesia, Primary, 38	Infertility, Immotile cilia, Absent inner and outer dynein arms	OMIM:618063
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp...	ORPHA:90796
Testicular Agenesis	Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,...	ORPHA:325124
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr...	ORPHA:465508
Bloom Syndrome	Azoospermia, Decreased fertility in females, Cryptorchidism, Type II diabetes mellitus	OMIM:210900
Pituitary Dermoid And Epidermoid Cysts	Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne...	ORPHA:91351
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism	OMIM:222300
Aarskog-Scott Syndrome	Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle...	OMIM:305400
Carney Complex	Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul...	ORPHA:1359
Generalized Glucocorticoid Resistance Syndrome	Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre...	ORPHA:786
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Primary Ciliary Dyskinesia	Female infertility, Abnormal sperm motility, Male infertility	ORPHA:244
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Macroorchidism, Decreased serum insulin-like g...	ORPHA:85327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo...	OMIM:157640
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Micropenis, Decreased response to growth hormone stimulation test, Hypergo...	OMIM:602782
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility, Immotile cilia, Ciliary dyskinesia	OMIM:244400
Ciliary Dyskinesia, Primary, 6	Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium...	OMIM:610852
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia	ORPHA:85450
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Autosomal Dominant Cerebellar Ataxia	Azoospermia	ORPHA:99
Ciliary Dyskinesia, Primary, 16	Abnormal ciliary motility, Absent outer dynein arms, Ciliary dyskinesia	OMIM:614017
Bloom Syndrome	Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia	ORPHA:125
Fanconi Anemia	Cryptorchidism, Absent testis, Abnormal preputium morphology, Hypogonadism, Azoospermia, Decrease...	ORPHA:84
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ...	OMIM:137920
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Fanconi Anemia, Complementation Group A	Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism	OMIM:227650
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Reduced sperm motility, Pancreatic cysts	ORPHA:730
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Hyperaldosteronism, Cryptorchidism, Hyperparathyroidism, Diabetes insipidus, Abn...	ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Azoospermia, Delayed puberty	ORPHA:2072
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias	ORPHA:3063
Steinert Myotonic Dystrophy	Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di...	ORPHA:273
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia...	ORPHA:228123
Noonan Syndrome 1	Cryptorchidism, Male infertility, Hypogonadism, Hypospadias	OMIM:163950
Cystinosis, Nephropathic	Delayed puberty, Diabetes mellitus, Male infertility, Primary hypothyroidism, Male hypogonadism	OMIM:219800
Cystic Fibrosis	Male infertility	OMIM:219700

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 Cnbd2

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 Cnbd2.

No publications found that use IMPC mice or data for Cnbd2.

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
Cnbd2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cnbd2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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