Gene: Kash5 MGI:2687329

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Gene Summary

Name:
KASH domain containing 5
Synonyms:
LOC384619,  Ccdc155

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
decreased bone mineral content Kash5em1(IMPC)J HOM Early adult 2.44×10-25
decreased lean body mass Kash5em1(IMPC)J HOM Early adult 6.65×10-15
female infertility Kash5em1(IMPC)J HOM Early adult 0.00
decreased bone mineral density Kash5em1(IMPC)J HOM Early adult 2.57×10-20
hypoactivity Kash5em1(IMPC)J HOM Early adult 2.01×10-05
abnormal bone structure Kash5em1(IMPC)J HOM Early adult 2.43×10-12
increased total body fat amount Kash5em1(IMPC)J HOM Early adult 5.79×10-16
male infertility Kash5em1(IMPC)J HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Kash5 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 Kash5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
ORPHA:1646
Isochromosomy Yp
ORPHA:98797
Spermatogenic Failure 50
OMIM:619145
Isochromosomy Yq
ORPHA:98798
Premature Ovarian Failure 19
OMIM:619245
Persistent Mullerian Duct Syndrome, Types I And Ii
OMIM:261550
Spermatogenic Failure 46
OMIM:619095
Deafness-Infertility Syndrome
OMIM:611102
Ring Chromosome Y Syndrome
ORPHA:261529
Spermatogenic Failure 48
OMIM:619108
Spermatogenic Failure 43
OMIM:618751
Spermatogenic Failure 45
OMIM:619094
Spermatogenic Failure 49
OMIM:619144
Spermatogenic Failure, X-Linked, 3
OMIM:301059
Spermatogenic Failure 40
OMIM:618664
Spermatogenic Failure 47
OMIM:619102
Spermatogenic Failure 36
OMIM:618420
Spermatogenic Failure 54
OMIM:619379
Spermatogenic Failure 1
OMIM:258150
Spermatogenic Failure 39
OMIM:618643
Spermatogenic Failure 7
OMIM:612997
Spermatogenic Failure 42
OMIM:618745
Spermatogenic Failure 12
OMIM:615413
Female Infertility Due To Oocyte Meiotic Arrest
ORPHA:488191
Male Infertility Due To Acephalic Spermatozoa
ORPHA:529970
Spermatogenic Failure 52
OMIM:619202
Spermatogenic Failure 41
OMIM:618670
Oocyte Maturation Defect 9
OMIM:619011
Spermatogenic Failure, X-Linked, 2
OMIM:309120
Spermatogenic Failure 18
OMIM:617576
Spermatogenic Failure 20
OMIM:617593
Spermatogenic Failure 19
OMIM:617592
Spermatogenic Failure 35
OMIM:618341
Spermatogenic Failure 33
OMIM:618152
Spermatogenic Failure 34
OMIM:618153
Hypogonadotropic Hypogonadism 24 Without Anosmia
OMIM:229070
Deafness-Infertility Syndrome
ORPHA:94064
Oocyte Maturation Defect 2
OMIM:616780
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
OMIM:608653
Spermatogenic Failure 44
OMIM:619044
Spermatogenic Failure 31
OMIM:618112
Spermatogenic Failure 53
OMIM:619258
Spermatogenic Failure 11
OMIM:615081
Spermatogenic Failure 10
OMIM:614822
Premature Ovarian Failure 10
OMIM:612885
Hypogonadism, Male
OMIM:241100
46,Xx Testicular Disorder Of Sex Development
ORPHA:393
Spinocerebellar Ataxia Type 32
ORPHA:276183
Hypogonadotropic Hypogonadism 23 Without Anosmia
OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
ORPHA:52901
Spinocerebellar Ataxia 32
OMIM:613909
Spermatogenic Failure 5
OMIM:243060
Oocyte Maturation Defect 8
OMIM:619009
Familial Male-Limited Precocious Puberty
ORPHA:3000
Spermatogenic Failure 38
OMIM:618433
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
OMIM:614840
Osteomesopyknosis
OMIM:166450
Familial Hyperprolactinemia
ORPHA:397685
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
ORPHA:168563
Premature Ovarian Failure 6
OMIM:612310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
OMIM:614841
Spermatogenic Failure 25
OMIM:617960
Perrault Syndrome 6
OMIM:617565
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
OMIM:146110
Leydig Cell Hypoplasia
ORPHA:755
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
ORPHA:399805
Male Infertility With Teratozoospermia Due To Single Gene Mutation
ORPHA:399808
Hypogonadotropic Hypogonadism 25 With Anosmia
OMIM:618841
Premature Ovarian Failure 18
OMIM:619203
Spermatogenic Failure 51
OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
OMIM:301060
Hypergonadotropic Hypogonadism And Partial Alopecia
OMIM:241090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
ORPHA:1875
Oocyte Maturation Defect 7
OMIM:618550
Preimplantation Embryonic Lethality 1
OMIM:616814
Progesterone Resistance
OMIM:264080
Oocyte Maturation Defect 6
OMIM:618353
Kennedy Disease
ORPHA:481
Premature Ovarian Failure 2A
OMIM:300511
46,Xy Partial Gonadal Dysgenesis
ORPHA:251510
Spermatogenic Failure 32
OMIM:618115
Spermatogenic Failure 23
OMIM:617707
Spermatogenic Failure 22
OMIM:617706
Spermatogenic Failure 6
OMIM:102530
Spermatogenic Failure 26
OMIM:617961
Premature Ovarian Failure 5
OMIM:611548
Spermatogenic Failure 16
OMIM:617187
Spermatogenic Failure 21
OMIM:617644
Normosmic Congenital Hypogonadotropic Hypogonadism
ORPHA:432
Testicular Regression Syndrome
ORPHA:983
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
OMIM:609993
Ovarian Dysgenesis 2
OMIM:300510
Androgen Insensitivity Syndrome
ORPHA:754
Perrault Syndrome 2
OMIM:614926
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
OMIM:194072
Bone Marrow Failure Syndrome 5
OMIM:618165
Spermatogenic Failure 24
OMIM:617959
Premature Ovarian Failure 2B
OMIM:300604
Congenital Bilateral Absence Of Vas Deferens
ORPHA:48
46,Xx Gonadal Dysgenesis
ORPHA:243
Frasier Syndrome
ORPHA:347
Spermatogenic Failure 8
OMIM:613957
Spermatogenic Failure 55
OMIM:619380
Perrault Syndrome 4
OMIM:615300
Obesity Due To Congenital Leptin Deficiency
ORPHA:66628
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
ORPHA:75325
46,Xy Complete Gonadal Dysgenesis
ORPHA:242
Diethylstilbestrol Syndrome
ORPHA:1916
Obesity Due To Leptin Receptor Gene Deficiency
ORPHA:179494
Spinal And Bulbar Muscular Atrophy, X-Linked 1
OMIM:313200
46,Xy Sex Reversal 7
OMIM:233420
Spermatogenic Failure 2
OMIM:108420
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
ORPHA:753
Premature Ovarian Failure 1
OMIM:311360
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
ORPHA:2235
Partial Androgen Insensitivity Syndrome
ORPHA:90797
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
ORPHA:752
46,Xx Ovotesticular Disorder Of Sex Development
ORPHA:2138
Gonadoblastoma
ORPHA:206484
Xp22.3 Microdeletion Syndrome
ORPHA:1643
Complete Androgen Insensitivity Syndrome
ORPHA:99429
Premature Ovarian Failure 9
OMIM:615724
Satoyoshi Syndrome
ORPHA:3130
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614897
Aromatase Deficiency
ORPHA:91
Hydatidiform Mole, Recurrent, 4
OMIM:618432
Hepatic Adenomas, Familial
OMIM:142330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
ORPHA:2232
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
OMIM:308700
Premature Ovarian Failure 7
OMIM:612964
Oocyte Maturation Defect 10
OMIM:619176
Premature Ovarian Failure 3
OMIM:608996
Hypogonadism-Cataract Syndrome
OMIM:240950
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
OMIM:264300
Spastic Paraplegia-Precocious Puberty Syndrome
ORPHA:2826
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
ORPHA:90793
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
ORPHA:2229
Bardet-Biedl Syndrome
ORPHA:110
Premature Ovarian Failure 16
OMIM:618723
Premature Ovarian Failure 8
OMIM:615723
46,Xy Sex Reversal 11
OMIM:273250
Tetragametic Chimerism
ORPHA:199310
Androgen Insensitivity, Partial
OMIM:312300
47,Xyy Syndrome
ORPHA:8
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
OMIM:614858
Kallmann Syndrome With Spastic Paraplegia
OMIM:308750
Polycystic Ovary Syndrome 1
OMIM:184700
Dyskeratosis Congenita, Autosomal Recessive 2
OMIM:613987
45,X/46,Xy Mixed Gonadal Dysgenesis
ORPHA:1772
Fowler Urethral Sphincter Dysfunction Syndrome
ORPHA:2795
Functioning Gonadotropic Adenoma
ORPHA:91348
Hemochromatosis, Type 1
OMIM:235200
Aromatase Deficiency
OMIM:613546
Retinal Dystrophy With Or Without Extraocular Anomalies
OMIM:617175
Classic Galactosemia
ORPHA:79239
Woodhouse-Sakati Syndrome
ORPHA:3464
Spermatogenic Failure 28
OMIM:618086
Asherman Syndrome
ORPHA:137686
Ovarian Fibrothecoma
ORPHA:314478
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
ORPHA:90796
Blepharophimosis, Ptosis, And Epicanthus Inversus
OMIM:110100
Premature Ovarian Failure 17
OMIM:619146
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
OMIM:601163
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
ORPHA:289548
Myotonic Dystrophy 1
OMIM:160900
Fanconi Anemia, Complementation Group A
OMIM:227650
Non-Functioning Pituitary Adenoma
ORPHA:91349
Ovarian Fibroma
ORPHA:314473
Xeroderma Pigmentosum, Autosomal Dominant, Mild
OMIM:194400
Xeroderma Pigmentosum, Complementation Group G
OMIM:278780
De Sanctis-Cacchione Syndrome
OMIM:278800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
ORPHA:572333
Prolactinoma
ORPHA:2965
Fanconi Anemia, Complementation Group E
OMIM:600901
Müllerian Aplasia And Hyperandrogenism
ORPHA:247768
Ciliary Dyskinesia, Primary, 45
OMIM:618801
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
OMIM:157640
Symptomatic Form Of Hemochromatosis Type 1
ORPHA:465508
Fanconi Anemia, Complementation Group C
OMIM:227645
Burkitt Lymphoma
ORPHA:543
Ciliary Dyskinesia, Primary, 34
OMIM:617091
Leopard Syndrome 1
OMIM:151100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
ORPHA:90795
Wolfram Syndrome 1
OMIM:222300
Xeroderma Pigmentosum, Complementation Group F
OMIM:278760
Genitourinary And/Or Brain Malformation Syndrome
OMIM:618820
Aarskog-Scott Syndrome
OMIM:305400
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
ORPHA:90301
Fanconi Anemia, Complementation Group D2
OMIM:227646
Testicular Agenesis
ORPHA:325124
Ciliary Dyskinesia, Primary, 18
OMIM:614874
Fraser-Like Syndrome
OMIM:229230
Congenital Factor Vii Deficiency
ORPHA:327
Mccune-Albright Syndrome
ORPHA:562
46,Xx Sex Reversal 2
OMIM:278850
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
OMIM:300985
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
ORPHA:2239
Ciliary Dyskinesia, Primary, 9
OMIM:612444
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
OMIM:618948
Ciliary Dyskinesia, Primary, 14
OMIM:613807
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
OMIM:240300
Lesch-Nyhan Syndrome
OMIM:300322
Bardet-Biedl Syndrome 1
OMIM:209900
Tsh-Secreting Pituitary Adenoma
ORPHA:91347
Trichothiodystrophy
ORPHA:33364
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
OMIM:619321
Primary Ciliary Dyskinesia
ORPHA:244
Hypoplasminogenemia
ORPHA:722
Ataxia-Telangiectasia
OMIM:208900
X-Linked Intellectual Disability, Snyder Type
ORPHA:3063
Bloom Syndrome
ORPHA:125
Turner Syndrome
ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
ORPHA:99413
Mosaic Monosomy X
ORPHA:99228
Monosomy X
ORPHA:99226
Schinzel-Giedion Syndrome
ORPHA:798
Xeroderma Pigmentosum, Complementation Group E
OMIM:278740
Steinert Myotonic Dystrophy
ORPHA:273
Ciliary Dyskinesia, Primary, 1
OMIM:244400
Xeroderma Pigmentosum, Complementation Group C
OMIM:278720
Xeroderma Pigmentosum, Complementation Group A
OMIM:278700
Xeroderma Pigmentosum, Complementation Group D
OMIM:278730
Noonan Syndrome 1
OMIM:163950
Cystinosis, Nephropathic
OMIM:219800
Alström Syndrome
ORPHA:64
Cystic Fibrosis
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 Kash5

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 Kash5.

No publications found that use IMPC mice or data for Kash5.

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MGI Allele Allele Type Produced
Kash5em1(IMPC)J Exon Deletion Mice
Kash5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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