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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Errfi1tm1Kln
targeted mutation 1, Rudiger Klein
MGI:3639295
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Errfi1tm1Kln/Errfi1tm1Kln involves: 129P2/OlaHsd * C57BL/6N MGI:3639756
cx2
Egfrwa2/Egfr+
Errfi1tm1Kln/Errfi1tm1Kln
involves: 129P2/OlaHsd * C3H/HeSnJ * C57BL/6 MGI:3639757
cx3
Egfrwa2/Egfrwa2
Errfi1tm1Kln/Errfi1tm1Kln
involves: 129P2/OlaHsd * C3H/HeSnJ * C57BL/6 MGI:3639758


Genotype
MGI:3639756
hm1
Allelic
Composition
Errfi1tm1Kln/Errfi1tm1Kln
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Errfi1tm1Kln mutation (0 available); any Errfi1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die at 5-7 months of age, due to fixed joints from bone and cartilage hyperplasia

digestive/alimentary system
• homozygotes develop rectal prolapse with tubular adenoma of the rectal mucosa

limbs/digits/tail
• mutants develop ulcerations of the footpad

skeleton
• homozygotes develop bone hyperplasia leading to fixed joints causing premature death
• homozygotes develop cartilage hyperplasia leading to fixed joints causing premature death

respiratory system
• in homozygous lungs, alveolar septal thickening with hyperplasia of the alveolar epithelium is observed

neoplasm
• homozygotes are susceptible to carcinogen induced formation of melanoma; all mutant mice develop melanomas 12 weeks after DMBA and TPA
• hoozygotes develop papillomas on the ear carrying an ear tag suggesting wounding in combination with the mutations causes formation of tumors; tags are attached at 3-5 weeks of age and papillomas develop within 2 months
• with low incidence papillomas develop on bare skin, typically on the eyelids or footpads of homozygotes
• with tumor promotion by DMBA or TPA, 50% of homozygotes develop papillomas within 2 weeks of treatment, compared to wild-type treated mice which develop papillomas usually after 10 weeks of treatment
• number of papillomas increases to 10 per mouse until 7 weeks after onset of gefitinib treatment
• mice develop tubular adenoma of the mucosa with low grade dysplasia and focal transition to well-differentiated adenocarcinoma
• homozygotes show a high incidence of tubular adenoma of gastic mucosa
• occasionally mice develop apparent nodular broncheoalveolar adenoma
• in perineal epidermis squamous cell carcinomas characterized by focal invasion of proliferating keratinocytes

vision/eye
• most homozygotes show a 5-10 day delay in eyelid opening, correlating with hyperproliferation of the eyelid epidermis, compared to wild-type controls

homeostasis/metabolism
• homozygotes are susceptible to carcinogen induced formation of melanoma; all mutant mice develop melanomas 12 weeks after DMBA and TPA

integument
• Background Sensitivity: hyperplasia varies in severity with mice on a mixed 129/C57BL6 showing stronger phenotype than mutants on a pure C57BL/6 or CD-1 background which display a weaker skin phenotype
• within a few days of birth, homozygotes develop a skin phenotype detected on the tail with flaky skin
• within a few days of birth, homozygotes develop a skin phenotype detected on the tail with ulcerations of the tail
• hoozygotes develop papillomas on the ear carrying an ear tag suggesting wounding in combination with the mutations causes formation of tumors; tags are attached at 3-5 weeks of age and papillomas develop within 2 months
• with low incidence papillomas develop on bare skin, typically on the eyelids or footpads of homozygotes
• with tumor promotion by DMBA or TPA, 50% of homozygotes develop papillomas within 2 weeks of treatment, compared to wild-type treated mice which develop papillomas usually after 10 weeks of treatment
• number of papillomas increases to 10 per mouse until 7 weeks after onset of gefitinib treatment




Genotype
MGI:3639757
cx2
Allelic
Composition
Egfrwa2/Egfr+
Errfi1tm1Kln/Errfi1tm1Kln
Genetic
Background
involves: 129P2/OlaHsd * C3H/HeSnJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (3 available); any Egfr mutation (87 available)
Errfi1tm1Kln mutation (0 available); any Errfi1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• mice display similar epidermal thickening, suprabasal proliferation and impaired differentiation as Errfi1tm1Kln homozygotes




Genotype
MGI:3639758
cx3
Allelic
Composition
Egfrwa2/Egfrwa2
Errfi1tm1Kln/Errfi1tm1Kln
Genetic
Background
involves: 129P2/OlaHsd * C3H/HeSnJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (3 available); any Egfr mutation (87 available)
Errfi1tm1Kln mutation (0 available); any Errfi1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• skin phenotype seen in Egfrwa2/+, Errfi1tm1Kln homozygotes and single Errfi1tm1Kln homozygotes is completely rescued in double knockouts





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory