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Phenotypes Associated with This Genotype
Genotype
MGI:4410618
Allelic
Composition
Mks1krc/Mks1krc
Genetic
Background
involves: C3HeB/FeJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mks1krc mutation (0 available); any Mks1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• mice exhibit reduced ossification of the frontal bone compared with wild-type mice
• 80% of mice exhibit hypomineralization and/or splitting of the supraoccipital bone unlike wild-type mice
• mice exhibit reduced ossification of the parietal bone compared with wild-type mice
• in one mouse
• mice exhibit campomelia (bowing of the long bones) unlike wild-type mice
• at E18.5 in the hindlimbs
• in some mice
• in some mice

renal/urinary system
• at E18.5, the largest kidney cysts are found in the glomeruli and proximal tubules
• at E18.5
• medullary thick ascending limbs exhibit dilation of the epithelial tubules unlike in wild-type mice
• at E18.5, multiple segments of mutant nephrons dilate or undergo cystogenesis
• at E18.5, mice exhibit multiple kidney cysts unlike wild-type mice
• mice exhibit genitourinary defects unlike wild-type mice

nervous system
• floor plate cells are reduced compared to in wild-type mice
• Background Sensitivity: fewer mice than on a C57BL/6 and C3HeB/FeJ background

liver/biliary system
• mice develop multiple bile ducts unlike in wild-type mice
• however, mice do not develop biliary cysts
• mice exhibit disruptions in the ductal plate and bile duct formation compared with wild-type mice
• mice exhibit a persistent ductal plate unlike wild-type mice

embryo
• nodal cilia are absent at E7.5 and sparse by E8.5 with variable length and morphology unlike in wild-type mice
• floor plate cells are reduced compared to in wild-type mice

reproductive system
• mice exhibit genitourinary defects unlike wild-type mice
• ovaries are sometimes displaced and exhibit abnormal morphology compared to in wild-type mice
• ovaries are sometimes displaced

respiratory system
• some mice exhibit variable fusion between the right lung lobes unlike wild-type mice

cardiovascular system
• 26% of mice exhibit partial looping
• the direction of heart looping is reversed in 36% of mice unlike in wild-type mice

cellular
• mesenchymal and epithelial tissues exhibit a reduction in the number of primary cilia compared to in wild-type mice
• however, lung cells and bile ducts in the liver exhibit normal cilia
• nodal cilia are absent at E7.5 and sparse by E8.5 with variable length and morphology unlike in wild-type mice

digestive/alimentary system
• in one mouse

growth/size/body
• in one mouse
• mice exhibit disruption of left-right asymmetry, including reversed heart looping, outflow tract on the left, and left and right ventricle reversal, compared with wild-type mice

endocrine/exocrine glands
• mice develop multiple bile ducts unlike in wild-type mice
• however, mice do not develop biliary cysts
• mice exhibit disruptions in the ductal plate and bile duct formation compared with wild-type mice
• mice exhibit a persistent ductal plate unlike wild-type mice
• ovaries are sometimes displaced and exhibit abnormal morphology compared to in wild-type mice
• ovaries are sometimes displaced

craniofacial
• mice exhibit reduced ossification of the frontal bone compared with wild-type mice
• 80% of mice exhibit hypomineralization and/or splitting of the supraoccipital bone unlike wild-type mice
• mice exhibit reduced ossification of the parietal bone compared with wild-type mice
• in one mouse
• in one mouse

limbs/digits/tail
• 66% of mice exhibit a single extra anterior digit compared with wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Meckel syndrome DOID:0050778 J:154075


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory