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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Mks1
MKS transition zone complex subunit 1
MGI:3584243
112 phenotypes from 4 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Mks1avc6/Mks1avc6
involves: C57BL/6J * FVB/N 		complete atrioventricular septal defect J:163196
perinatal lethality J:163196
Mks1hlb614/Mks1hlb614
involves: C3H * C57BL/6 		abnormal cochlear hair cell morphology J:167534
abnormal cochlear outer hair cell morphology J:167534
abnormal craniofacial morphology J:167534
abnormal direction of heart looping J:167534
abnormal endochondral bone ossification J:167534
abnormal floor plate morphology J:167534
abnormal liver morphology J:167534
abnormal neural tube morphology J:167534
abnormal orientation of outer hair cell stereociliary bundles J:167534
abnormal pollex morphology J:167534
abnormal renal glomerular capsule morphology J:167534
abnormal sternum morphology J:167534
abnormal stomach position or orientation J:167534
absent nodal flow J:167534
absent spleen J:167534
accessory spleen J:167534
anophthalmia J:167534
cleft palate J:167534
cleft upper lip J:167534
decreased embryonic cilium length J:167534
decreased embryonic cilium number J:167534
decreased kidney epithelial cell primary cilium length J:167534
dextrocardia J:167534
domed cranium J:167534
duplex kidney J:167534
enlarged kidney J:167534
enophthalmos J:167534
heterotaxia J:167534
kidney cyst J:167534
liver cyst J:167534
mandible hypoplasia J:167534
microphthalmia J:167534
pericardial effusion J:167534
pointed snout J:167534
polydactyly J:167534
preaxial polydactyly J:167534
normal respiratory system phenotype J:167534
right aortic arch J:167534
small heart J:167534
split sternal manubrium J:167534
transposition of great arteries J:167534
Mks1krc/Mks1krc
involves: C3HeB/FeJ * C57BL/6 * CD-1 		abnormal bile duct development J:154075
abnormal bile duct morphology J:154075
abnormal direction of heart looping J:154075
abnormal floor plate morphology J:154075
abnormal frontal bone morphology J:154075
abnormal heart looping J:154075
abnormal long bone morphology J:154075
abnormal loop of Henle ascending limb thick segment morphology J:154075
abnormal motile primary cilium morphology J:154075
abnormal neural tube morphology J:154075
abnormal ovary development J:154075
abnormal parietal bone morphology J:154075
abnormal primary cilium morphology J:154075
abnormal reproductive system morphology J:154075
abnormal supraoccipital bone morphology J:154075
abnormal thoracic cage morphology J:154075
abnormal urinary system development J:154075
absent maxilla J:154075
cleft palate J:154075
decreased length of long bones J:154075
dilated kidney collecting duct J:154075
dilated nephron J:154075
dilated renal glomerular capsule J:154075
ectopic ovary J:154075
enlarged kidney J:154075
exencephaly J:154075
fused right lung lobes J:154075
heterotaxia J:154075
hydrocephaly J:154075
kidney cortex cyst J:154075
lethality throughout fetal growth and development, complete penetrance J:154075
polycystic kidney J:154075
preaxial polydactyly J:154075
presphenoid bone hypoplasia J:154075
pulmonary hypoplasia J:154075
rib bifurcation J:154075
rib fusion J:154075
short sternum J:154075
Mks1krc/Mks1krc
involves: C3HeB/FeJ * C57BL/6J 		abnormal autopod morphology J:154075
embryonic lethality during organogenesis, incomplete penetrance J:154075
exencephaly J:154075
lethality throughout fetal growth and development, complete penetrance J:154075
Mks1tm1a(EUCOMM)Wtsi/Mks1+
B6JTyr;B6N-Mks1tm1a(EUCOMM)Wtsi/Wtsi 		abnormal nail morphology J:175295
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
involves: C57BL/6 * C57BL/6N 		abnormal brain morphology J:196290
abnormal cell morphology J:196290
abnormal cerebral aqueduct morphology J:196290
abnormal cerebral cortex morphology J:196290
abnormal cerebral hemisphere morphology J:196290
abnormal ear morphology J:196290
abnormal embryo turning J:196290
abnormal ependyma motile cilium morphology J:196290
abnormal fontanelle morphology J:196290
abnormal forebrain development J:196290
abnormal long bone morphology J:196290
abnormal neocortex morphology J:196290
abnormal occipital bone morphology J:196290
abnormal posterior cranial fossa morphology J:196290
abnormal renal tubule epithelial cell primary cilium morphology J:196290
anophthalmia J:196290
cerebellum vermis hypoplasia J:196290
cleft upper lip J:196290
cyanosis J:196290
decreased length of long bones J:196290
decreased respiration J:196290
dextrocardia J:196290
enlarged fourth ventricle J:196290
enlarged heart J:196290
enlarged kidney J:196290
hydrocephaly J:196290
incomplete rostral neuropore closure J:196290
increased cell proliferation J:196290
increased kidney cell proliferation J:196290
increased neuron apoptosis J:196290
kidney cyst J:196290
left pulmonary isomerism J:196290
lethality throughout fetal growth and development, incomplete penetrance J:196290
liver fibrosis J:196290
micrognathia J:196290
microphthalmia J:196290
neonatal lethality, complete penetrance J:196290
ocular hypertelorism J:196290
omphalocele J:196290
polyphalangy J:196290
preaxial polydactyly J:196290
pulmonary hypoplasia J:196290
semilobar holoprosencephaly J:196290
situs inversus J:196290
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
involves: C57BL/6N 		abnormal eye morphology J:200082
edema J:200082
polydactyly J:200082
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory