About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3716631
Allelic
Composition
Rpgrip1ltm1Urt/Rpgrip1ltm1Urt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1ltm1Urt mutation (0 available); any Rpgrip1l mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive after birth
• embryos die around birth

embryo
• between E9.5 and E11.5, inverted tail turning is observed in 39% of embryos
• at E11.5, limb buds have fewer cilia relative to wild-type; mesenchymal limb cells (MLCs) and mouse embryonic fibroblasts (MEFs) show enhancement of cilia length in culture compared to wild-type cells
• from E12.5, fore- and hindlimb buds have a broadened shape
• at E11.5, the neural tube has less cilia relative to wild-type embryos

growth/size/body
• frequent
• at later stages, embryos show heterotaxia in organ development; some embryos have the stomach positioned to the right
• all embryos develop only 2 symmetrical lung lobes

craniofacial
• pronounced round skull
• nasal tissues are unfused in some embryos
• mandibular structures are malformed
• maxillary tissues are unfused
• frequent

limbs/digits/tail
• at E11.5, limb buds have fewer cilia relative to wild-type; mesenchymal limb cells (MLCs) and mouse embryonic fibroblasts (MEFs) show enhancement of cilia length in culture compared to wild-type cells
• from E12.5, fore- and hindlimb buds have a broadened shape
• fore- and hindlimbs show preaxial polydactyly; there are 2 extra digits on the forelimbs and 1 extra on the hindlimbs (J:122745)

cardiovascular system
• at E9.5, ~19% of embryos show heart looping to right side of body (or randomized looping)
• 9 of 27 embryos show perimembranous ventricular septal defects marked by the combination of a significantly thinner muscular part of the ventricular septum and the absence of the membranous part of the VS
• pericardium is enlarged in most embryos examined at E10.5

respiratory system
• all embryos develop only 2 symmetrical lung lobes

nervous system
• at E11.5, the neural tube has less cilia relative to wild-type embryos
• observed in most embryos examined at E10.5 (J:122745)
• ventricular dilation
• reduced or absent
• reduced or absent
• reduced or absent
• reduced or absent
• reduced or absent
• reduced or absent
• in 50% of mice

liver/biliary system
• at E18.5, ductal plate malformations are apparent and characterized by the presence of several bile ducts surrounding the portal vein

renal/urinary system
• at E18.5, microcystic dilatation of proximal tubules

vision/eye
• embryos have eyes which are reduced in size (J:122745)
• some mice have small, deep set eyes (J:123018)
• some mice have no eyes

skeleton
• pronounced round skull
• nasal tissues are unfused in some embryos
• mandibular structures are malformed
• maxillary tissues are unfused

endocrine/exocrine glands
• at E18.5, ductal plate malformations are apparent and characterized by the presence of several bile ducts surrounding the portal vein
• reduced or absent
• reduced or absent


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/23/2021
MGI 6.16
The Jackson Laboratory