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Phenotypes Associated with This Genotype
Genotype
MGI:5557988
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (2 available); any Shh mutation (48 available)
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the 2 pups that survived past birth had to be euthanized by P7
• 1 of 3 pups died at birth

respiratory system
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips
• cultured lungs from E12.5 embryos show a significant reduction in branching
• branch tips are larger and rounder and lead to large open spaces in the lung
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium
• distal epithelial tips show a range of defects including absence of microvilli, apical membranous blebs and disrupted cell-cell adhesion
• the basal epithelial surface is not uniform and many cells have a rounded appearance with membranous blebs projecting into the subcellular space
• the extracellular matrix and stabilized tubulin appear disrupted at the basal surfaces
• noticeable by E14.5 and more significant by E16.5
• pups that survive birth have difficulty breathing

cellular
• apparent precocious differentiation of distal tip progenitor cells into type 2 alveolar cells at E14.5
• migration of epithelial cells from cultured E12.5 lung buds is decreased compared to controls
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium

growth/size/body
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips


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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last database update
01/28/2026
MGI 6.24
The Jackson Laboratory