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Gene: Kash5 MGI:2687329

Gene Summary

Name:

KASH domain containing 5

Synonyms:

LOC384619, Ccdc155

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral content	Kash5^em1(IMPC)J	HOM	Early adult	2.44×10^-25
decreased lean body mass	Kash5^em1(IMPC)J	HOM	Early adult	6.65×10^-15
female infertility	Kash5^em1(IMPC)J	HOM	Early adult	0.00
decreased bone mineral density	Kash5^em1(IMPC)J	HOM	Early adult	2.57×10^-20
hypoactivity	Kash5^em1(IMPC)J	HOM	Early adult	2.01×10^-05
abnormal bone structure	Kash5^em1(IMPC)J	HOM	Early adult	2.43×10^-12
increased total body fat amount	Kash5^em1(IMPC)J	HOM	Early adult	5.79×10^-16
male infertility	Kash5^em1(IMPC)J	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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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

View 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.

Human diseases associated with Kash5 (0 diseases)
Human diseases predicted to be associated with Kash5 (229 diseases)

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
Kash5^em1(IMPC)J	Exon Deletion	Mice
Kash5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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