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Gene: Cst3 MGI:102519

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Gene Summary

Name:
cystatin C
Synonyms:
CysC

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
small superior vagus ganglion Cst3tm1b(EUCOMM)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 homozygote 50% (1 of 2)
Aorta  Section images homozygote 0.0% (0 of 2)
Bone marrow  Section images homozygote 50% (1 of 2)
Brown adipose tissue  Section images homozygote 50% (1 of 2)
Cecum  Section images homozygote 50% (1 of 2)
Cerebellum  Section images homozygote 50% (1 of 2)
Colon  Section images homozygote 50% (1 of 2)
Diaphragm  Section images homozygote 50% (1 of 2)
Epididymis  Section images homozygote 50% (1 of 2)
Esophagus  Section images homozygote 0.0% (0 of 2)
Eye  Section images homozygote 50% (1 of 2)
Gonadal fat pad  Section images homozygote 50% (1 of 2)
Harderian gland  Section images homozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Ileum  Section images homozygote 50% (1 of 2)
Jejunum  Section images homozygote 50% (1 of 2)
Kidney  Section images homozygote 50% (1 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Liver  Section images homozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lung  Section images homozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images homozygote 50% (1 of 2)
Mesenteric lymph node  Section images homozygote 50% (1 of 2)
Midbrain  Section images homozygote 50% (1 of 2)
Olfactory lobe  Section images homozygote 50% (1 of 2)
Ovary  Section images homozygote 0.0% (0 of 2)
Oviduct  Section images homozygote 0.0% (0 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pancreas  Section images homozygote 50% (1 of 2)
Parathyroid gland  Section images homozygote 0.0% (0 of 2)
Parotid gland  Section images homozygote 0.0% (0 of 2)
Penis  Section images homozygote 50% (1 of 2)
Pituitary gland  Section images homozygote 0.0% (0 of 2)
Prostate gland  Section images homozygote 50% (1 of 2)
Quadriceps  Section images homozygote 50% (1 of 2)
Sciatic nerve  Section images homozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Skin  Section images homozygote 50% (1 of 2)
Spinal cord  Section images homozygote 50% (1 of 2)
Spleen  Section images homozygote 50% (1 of 2)
Stomach  Section images homozygote 50% (1 of 2)
Sublingual gland  Section images homozygote 50% (1 of 2)
Submandibular gland  Section images homozygote 50% (1 of 2)
Testis  Section images homozygote 50% (1 of 2)
Thymus  Section images homozygote 50% (1 of 2)
Thyroid gland  Section images homozygote 0.0% (0 of 2)
Tongue  Section images homozygote 50% (1 of 2)
Trigeminal V nerve  Section images homozygote 0.0% (0 of 2)
Urinary bladder  Section images homozygote 50% (1 of 2)
Uterus  Section images homozygote 0.0% (0 of 2)
Vagina  Section images homozygote 0.0% (0 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Vesicular gland  Section images homozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
N/A Ambiguous
Blood N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 50% (1 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brainstem N/A homozygote Not available
N/A Ambiguous
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A homozygote Not available
N/A Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A homozygote Not available
N/A Ambiguous
Chest bone N/A homozygote Not available
N/A Ambiguous
N/A Ambiguous
N/A Ambiguous
Duodenum N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Ambiguous
N/A Ambiguous
Gall bladder N/A homozygote Not available
N/A Ambiguous
N/A Ambiguous
Heart N/A homozygote Not available
N/A Ambiguous
Hindlimb N/A homozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A homozygote Not available
N/A Ambiguous
N/A Ambiguous
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Large intestine N/A homozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A homozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Lymph node N/A homozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
N/A Ambiguous
N/A Ambiguous
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
N/A Ambiguous
N/A Ambiguous
N/A Ambiguous
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A homozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A homozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
N/A Ambiguous
N/A Ambiguous
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A homozygote Not available
Small intestine N/A heterozygote 0.0% (0 of 2)
Small intestine N/A homozygote 50% (1 of 2)
Spinal cord N/A heterozygote Ambiguous
Spleen N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Stomach pyloric region N/A homozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Striatum N/A homozygote Not available
N/A Ambiguous
N/A Ambiguous
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
N/A Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Trachea N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
N/A Ambiguous
Uterus N/A heterozygote 50% (1 of 2)
N/A Ambiguous
N/A Ambiguous
Vas deferens N/A homozygote Not available
Vascular system N/A homozygote Not available
N/A Ambiguous
White adipose tissue N/A heterozygote Ambiguous
White adipose tissue N/A homozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 33.33% (2 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 33.33% (2 of 6)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 33.33% (2 of 6)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 33.33% (2 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 33.33% (2 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 33.33% (2 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 33.33% (2 of 6)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 33.33% (2 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 33.33% (2 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 33.33% (2 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 33.33% (2 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 33.33% (2 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 33.33% (2 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 33.33% (2 of 6)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (2 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 33.33% (2 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

166 Images

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X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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Embryo LacZ

LacZ images wholemount

40 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Human diseases caused by Cst3 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 Cst3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Macular Degeneration, Age-Related, 11
OMIM:611953

The table below shows human diseases predicted to be associated to Cst3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Myeloma, Multiple
Amyloidosis OMIM:254500
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis, Impotence OMIM:105210
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis ORPHA:439232
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Familial Mediterranean Fever
Orchitis, Amyloidosis, Renal amyloidosis OMIM:249100
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Q Fever
Amyloidosis ORPHA:781
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Primary Sclerosing Cholangitis
Amyloidosis ORPHA:171
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Cutaneous lichen amyloidosis ORPHA:653
Muckle-Wells Syndrome
Renal amyloidosis ORPHA:575
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... ORPHA:1359
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Lysinuric Protein Intolerance
Hepatic amyloidosis, Renal amyloidosis ORPHA:470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis ORPHA:79408
Macular Degeneration, Age-Related, 11
OMIM:611953

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 Cst3

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 Cst3.

No publications found that use IMPC mice or data for Cst3.

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
Cst3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cst3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cst3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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