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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Egfrtm1Rdk
targeted mutation 1, Rik Derynck
MGI:1935113
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Egfrtm1Rdk/Egfrtm1Rdk involves: 129X1/SvJ * Black Swiss MGI:2176926


Genotype
MGI:2176926
hm1
Allelic
Composition
Egfrtm1Rdk/Egfrtm1Rdk
Genetic
Background
involves: 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrtm1Rdk mutation (1 available); any Egfr mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice born alive all died within 8 days of birth

growth/size/body
• cleft palates found in about 1/3 of mice (J:27464)
• usually involves secondary palate but sometimes between the maxillary and frontonasal processes (J:54535)
• delayed closure of palate sometimes seen (J:54535)
• thin and poorly organized
• no fungiform taste papillae
• one day delay in external ear opening
• approximately half of embryos between E10 and E17 were smaller than normal
• small sized mice tended to die within 3-4 days
• pups of normal size at birth start to loose weight after four days
• approximately half of mice between E10 and E17 were smaller than normal

digestive/alimentary system
• cleft palates found in about 1/3 of mice (J:27464)
• usually involves secondary palate but sometimes between the maxillary and frontonasal processes (J:54535)
• delayed closure of palate sometimes seen (J:54535)
• thin and poorly organized
• no fungiform taste papillae
• slow cell proliferation
• 2 day old mice with milk in their stomachs but with haemorrhagic and distended intestine
• intestines less developed with fewer and shorter villi
• reduction in terminal buds of submandibular glands
• undernourished by day 7 and stomachs devoid of milk

respiratory system
• at E12.5, mutant embryos show defective branching morphogenesis with 34% fewer primordial tubules and significantly less branching than wild-type controls
• at E14.5, sparser bronchial trees with 30% less tubules and abundant interstitial mesenchyme are observed
• at E15.5, less acinar tubules and terminal sac-like structures are formed
• mutant E12.5 lungs branch poorly in vitro
• gasping newborns have, on average, one intra-alveolar septum per four alveoli whereas wild-type controls have one septum per two alveoli
• the number of interalveolar septa is 24/unit surface area versus 60/unit surface area in wild-type controls
• the number of alveoli is reduced by 27% resulting in a 52% smaller alveolar volume than in wild-type controls
• newborn mice display thinner interstitial tissue than controls
• at E15.5, less acinar tubules and terminal sac-like structures are formed
• at E16.5, mutant acini are abnormally dilated relative to those in control lungs
• many of the smaller newborns display collapsed alveoli close to the pleural surface (J:27464)
• only a few cells in the collapsed alveoli stain positive for surfactant SP-C or SP-A (J:27464)
• newborn mice display areas of collapsed, hemorrhagic and irregularly shaped alveoli with glycogen-containing cells (J:41158)
• fewer septations, larger alveolar spaces, and thinner interstitial tissue are observed (J:41158)
• many, but not all, mutant type II pneumocytes contain more glycogen storage granules and fewer lamellar bodies than control cells, suggesting epithelial immaturity
• many, but not all, mutant type II pneumocytes contain fewer lamellar bodies than control cells
• gasping newborns have, on average, one intra-alveolar septum per four alveoli whereas wild-type controls have one septum per two alveoli
• the number of interalveolar septa is 24/unit surface area versus 60/unit surface in wild-type controls
• at P4, many of the smaller newborns display thick and hypercellular alveolar septa (J:27464)
• in culture, mutant E12.5 lung explants display only about half of terminal buds relative to wild-type controls
• intensity of immunostaining for SP-C is the same in the presence or the absence of EGF, unlike in wild-type controls where addition of EGF results in doubling of the number and increases the SP-C immunoreactivity in buds and branching ducts
• in culture, mutant E12.5 lung explants display irregularly shaped and dilated terminal buds relative to wild-type controls
• many of the smaller newborns display dilated terminal bronchi closer to the pleura (J:27464)
• wide terminal bronchi lined with numerous glycogen-positive red cells are observed (J:41158)
• 4 of 4 newborn mice display large airways close to the pleural surface
• 1 of 4 newborn mice display gasping
• 4 of 4 newborn mice display large atelectatic areas
• the mean air-filled area comprises 42% of total lung area versus 54% in controls

endocrine/exocrine glands
• reduction in terminal buds of submandibular glands
• slow cell proliferation
• beta cells proliferate more slowly
• delayed appearance in the pancreas
• abnormal organization
• failure of cells to migrate to their normal positions in the pancreas
• appear as streaks next to tuctal epithelial cells
• about half normal size at E12.5-E16.5

vision/eye
• prolapsed lens adhering to the cornea, identifiable by E17
• born with eyes open
• eyes closed by second day after birth

hearing/vestibular/ear
• one day delay in external ear opening

cardiovascular system
• in skin
• in skin

craniofacial
• retarded growth and very thin
• cleft palates found in about 1/3 of mice (J:27464)
• usually involves secondary palate but sometimes between the maxillary and frontonasal processes (J:54535)
• delayed closure of palate sometimes seen (J:54535)
• thin and poorly organized
• no fungiform taste papillae
• one day delay in external ear opening

skeleton
• retarded growth and very thin

embryo
• approximately half of embryos between E10 and E17 were smaller than normal
• small embryos had proportionately small placentas

integument
• in skin
• no hair evident when animals die around day 7
• few hair follicles
• formed by day 2
• nuclear layer only 1 cell layer thick
• like control animals at E17
• skin is thin with hematomas and petechiae
• becomes dry and flaky

homeostasis/metabolism
• 1 of 4 newborn mice display cyanotic skin color





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
01/14/2020
MGI 6.14
The Jackson Laboratory