Phenotypes Associated with This Genotype

Genotype
MGI:3639756

• Allelic Composition: Errfi1^tm1Kln/Errfi1^tm1Kln
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:109556 )

• mice die at 5-7 months of age, due to fixed joints from bone and cartilage hyperplasia

digestive/alimentary system

rectal prolapse ( J:109556 )

• homozygotes develop rectal prolapse with tubular adenoma of the rectal mucosa

limbs/digits/tail

abnormal foot pad morphology ( J:109556 )

• mutants develop ulcerations of the footpad

skeleton

abnormal bone structure ( J:109556 )

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

abnormal cartilage morphology ( J:109556 )

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

respiratory system

thick pulmonary interalveolar septum ( J:109556 )

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

neoplasm

increased incidence of tumors by chemical induction ( J:109556 )

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

increased skin papilloma incidence ( J:109556 )

• 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

increased adenoma incidence ( J:109556 )

• 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

increased carcinoma incidence ( J:109556 )

• in perineal epidermis squamous cell carcinomas characterized by focal invasion of proliferating keratinocytes

vision/eye

delayed eyelid opening ( J:109556 )

• 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

increased incidence of tumors by chemical induction ( J:109556 )

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

integument

epidermal hyperplasia ( J:109556 )

• 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

flaky skin ( J:109556 )

• within a few days of birth, homozygotes develop a skin phenotype detected on the tail with flaky skin

spontaneous skin ulceration ( J:109556 )

• within a few days of birth, homozygotes develop a skin phenotype detected on the tail with ulcerations of the tail

increased skin papilloma incidence ( J:109556 )

• 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