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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Egftm1Dle
targeted mutation 1, David C Lee
MGI:2176530
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Egftm1Dle/Egftm1Dle involves: 129P2/OlaHsd * C57BL/6J MGI:2176532
cx2
Aregtm1Dle/Aregtm1Dle
Egftm1Dle/Egftm1Dle
Tgfatm1Unc/Tgfatm1Unc
involves: 129P2/OlaHsd * C57BL/6 MGI:2176534
cx3
Egftm1Dle/Egftm1Dle
Eregtm1Dwt/Eregtm1Dwt
Tgfatm1Unc/Tgfatm1Unc
involves: 129S6/SvEvTac * C57BL/6J MGI:3512137


Genotype
MGI:2176532
hm1
Allelic
Composition
Egftm1Dle/Egftm1Dle
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egftm1Dle mutation (2 available); any Egf mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2176534
cx2
Allelic
Composition
Aregtm1Dle/Aregtm1Dle
Egftm1Dle/Egftm1Dle
Tgfatm1Unc/Tgfatm1Unc
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aregtm1Dle mutation (2 available); any Areg mutation (7 available)
Egftm1Dle mutation (2 available); any Egf mutation (3 available)
Tgfatm1Unc mutation (3 available); any Tgfa mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• most homozygous villous goblet cells stained less robustly with mucicarmine, suggesting they are producing lower amounts of mucin
• the number of villous goblet cells was decreased 32% relative to wild-type villi
• not observed in mice homozygous for any pair-wise combination of these three genes
• reduced levels of trefoil production, a peptide family critical for mucosal defense and ulcer healing

digestive/alimentary system
• most homozygous villous goblet cells stained less robustly with mucicarmine, suggesting they are producing lower amounts of mucin
• the number of villous goblet cells was decreased 32% relative to wild-type villi
• not observed in mice homozygous for any pair-wise combination of these three genes
• reduced levels of trefoil production, a peptide family critical for mucosal defense and ulcer healing
• the weight/length ratio of the small intestine was reduced 37% in triple null pups; functional maturation at weaning age was not affected
• fewer crypt cells were proliferating in homozygous ileum compared to wild-type
• spontaneous lesions affecting mucosal integrity observed in 50% of samples; lesions varied from mild erosions to occasional perforations; not observed in mice homozygous for any pair-wise combination of these three genes
• more susceptible to induced duodenal lesions; cysteamine treatment produced more severe lesions than in wild-type mice
• stunted villi with jagged or sheared tips; the average villus height in mutant ileum was reduced 47% relative to wild-type at three weeks, but only 11% at 5 weeks
• the muscularis mucosa layer was reduced in thickness at three weeks of age

endocrine/exocrine glands
• fewer crypt cells were proliferating in homozygous ileum compared to wild-type
• ducts in virgin pubescent glands hardly extended beyond the rudimentary anlage and only a few terminal end buds were observed at 6 weeks
• at 12 weeks, ductal trees were underdeveloped and had persistent terminal end buds
• during pregnancy, mammary glands exhibited defects in lobuloalveolar development; alveoli appear small and dense instead of engorged with fat droplets at day 18 of pregnancy
• on day 2 of lactation, alveoli are compressed and overcrowded, and exhibit increased epithelial density with irregular, compact alveolar morphology observed
• mutant mammary glands could not sustain lactation and expression of milk protein genes was decreased
• pups did not thrive due to decreased milk production of dams
• lactation improved with aged mothers

growth/size/body
• a 40% reduction in the body weight of pups by 3 weeks was observed; partially attenuated by cross-fostering to wild-type dams
• by 7 weeks, weights were 15% reduced relative to wild-type, suggesting that a maternal lactation defect was partially responsible for the weight loss and this is overcome on a chow diet
• accelerated with aging
• postnatal growth retardation of triple null pups was observed independent of maternal genotype
• more severe growth defects were seen when the mother was also triple null, and less severe growth defects were seen when the mother was wild-type
• control pups born to triple null mothers also exhibited growth retardation probably due to decreased milk production

reproductive system
• during pregnancy, mammary glands exhibited defects in lobuloalveolar development; alveoli appear small and dense instead of engorged with fat droplets at day 18 of pregnancy
• on day 2 of lactation, alveoli are compressed and overcrowded, and exhibit increased epithelial density with irregular, compact alveolar morphology observed

vision/eye
• incidence noted as more frequent (80-90%) than the single Tgfatm1Unc homozygous mutants (40-50%)
• incidence noted as more frequent (80-90%) than the single Tgfatm1Unc homozygous mutants (40-50%)
• incidence noted as more frequent (80-90%) than the single Tgfatm1Unc homozygous mutants (40-50%)

immune system
• accelerated with aging

integument
• ducts in virgin pubescent glands hardly extended beyond the rudimentary anlage and only a few terminal end buds were observed at 6 weeks
• at 12 weeks, ductal trees were underdeveloped and had persistent terminal end buds
• during pregnancy, mammary glands exhibited defects in lobuloalveolar development; alveoli appear small and dense instead of engorged with fat droplets at day 18 of pregnancy
• on day 2 of lactation, alveoli are compressed and overcrowded, and exhibit increased epithelial density with irregular, compact alveolar morphology observed
• mutant mammary glands could not sustain lactation and expression of milk protein genes was decreased
• pups did not thrive due to decreased milk production of dams
• lactation improved with aged mothers
• accelerated with aging
• accelerated with aging
• accelerated with aging
• accelerated with aging




Genotype
MGI:3512137
cx3
Allelic
Composition
Egftm1Dle/Egftm1Dle
Eregtm1Dwt/Eregtm1Dwt
Tgfatm1Unc/Tgfatm1Unc
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egftm1Dle mutation (2 available); any Egf mutation (3 available)
Eregtm1Dwt mutation (1 available); any Ereg mutation (8 available)
Tgfatm1Unc mutation (3 available); any Tgfa mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• partial penetrance similar to that in Tgfatm1Unc single homozygotes

integument
• similar to that in Tgfatm1Unc single homozygotes





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
12/10/2019
MGI 6.14
The Jackson Laboratory