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Gene: Spem1 MGI:1921538

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spermatid maturation 1
Synonyms:
1700095G12Rik

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 Spem1 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 Spem1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
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 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 4
Azoospermia OMIM:270960
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614897
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Epispadias, Ambig... ORPHA:1772
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Testicular neopl... ORPHA:1359
Bloom Syndrome
Azoospermia, Oligospermia, Premature ovarian insufficiency, Male infertility ORPHA:125
Cystic Fibrosis
Male infertility OMIM:219700
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Noonan Syndrome 1
Cryptorchidism, Hypospadias, Male infertility, Hypogonadism OMIM:163950

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 Spem1

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 Spem1.

No publications found that use IMPC mice or data for Spem1.

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MGI Allele Allele Type Produced
Spem1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Spem1tm209029(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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