Phenotypes associated with this allele

• Allele Symbol: Raph1^tm1.2Fbg
• Allele Name: targeted mutation 1.2, Frank B Gertler
• Allele ID: MGI:5818712
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Raph1^tm1.2Fbg/Raph1^tm1.2Fbg	involves: 129S4/SvJae * C57BL/6	MGI:5824016

Genotype
MGI:5824016

hm1

• Allelic Composition: Raph1^tm1.2Fbg/Raph1^tm1.2Fbg
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

digestive/alimentary system

abnormal colon morphology ( J:238262 )

• the immediate adjacent to the recto-anal transition zone junctional distal colon shows severe lesions

• the distal colon and ano-rectal transition from mice with rectal prolapse have increases in inflammation, hyperplasia, epithelial defects, and edema

abnormal rectum morphology ( J:238262 )

• mice with rectal prolapse show severe lesions in the rectum including recto-anal transitional zone with some extent into the immediate adjacent junctional distal colon

• in most mice with rectal prolapse, the prolapsed rectum shows moderate to severe mixed inflammation consisting of neutrophils, macrophages, lymphocytes and eosinophils, as well as epithelial erosions/ulcerations, prominent glandular hyper-proliferation and severe dysplasia/neoplasia

• mice with rectal prolapse frequently show thickened and proliferative rectum/rectal-colonic junction, forming moderate well differentiated micro-adenomatous to sessile proliferations with architectural and/or cytological atypia, visible mitosis, glandular herniation and invasion

rectal prolapse ( J:238262 )

• 26% of mice develop progressively worsening rectal prolapse

• mice with rectal prolapse range in age from 4 months to 13 months, and 17/19 are males

intestinal edema ( J:238262 )

• the distal colon and ano-rectal transition from mice with rectal prolapse exhibit edema

large intestinal inflammation ( J:238262 )

• the distal colon and ano-rectal transition from mice with rectal prolapse have increases in inflammation

• however, no florid typhlocolitis or colitis are seen

• some clinically normal mice infected with Helicobacter species show low-grade background inflammation throughout the lower bowel, most prominent in the cecum

hematopoietic system

increased myeloid cell number ( J:238262 )

• increase in circulating and splenic CD45+CD11b+Gr1+ myeloid-derived suppressor cells in mice with rectal prolapse and strong infiltration in the rectal prolapse tissue of these myeloid cells

homeostasis/metabolism

intestinal edema ( J:238262 )

• the distal colon and ano-rectal transition from mice with rectal prolapse exhibit edema

abnormal cytokine level ( J:238262 )

• mRNA expression of inflammatory factors including IFN-gamma, TNF-alpha, iNOS, IL-1beta, and IL-17 are elevated in rectal tissues and proximal colons of mice with rectal prolapse

immune system

abnormal cytokine level ( J:238262 )

• mRNA expression of inflammatory factors including IFN-gamma, TNF-alpha, iNOS, IL-1beta, and IL-17 are elevated in rectal tissues and proximal colons of mice with rectal prolapse

increased inflammatory response ( J:238262 )

• in most mice with rectal prolapse, the prolapsed rectum shows moderate to severe mixed inflammation consisting of neutrophils, macrophages, lymphocytes and eosinophils, as well as epithelial erosions/ulcerations, prominent glandular hyper-proliferation and severe dysplasia/neoplasia

large intestinal inflammation ( J:238262 )

• the distal colon and ano-rectal transition from mice with rectal prolapse have increases in inflammation

• however, no florid typhlocolitis or colitis are seen

• some clinically normal mice infected with Helicobacter species show low-grade background inflammation throughout the lower bowel, most prominent in the cecum

increased susceptibility to bacterial infection ( J:238262 )

• all mice with rectal prolapse and most mice without rectal prolapse are infected with Helicobacter species

• all mice with rectal prolapse are colonized by H. typhlonius and 53% are colonized by H. hepaticus

• 95% of 3 month or older clinically normal mice are co-infected with both H. typhlonius and H. hepaticus

• three clinically normal mice were infected with H. mastomyrinus and one with an unnamed isolate MIT01-6451

• ceca are more heavily colonized than colons and rectums have the lowest colonization of bacteria

neoplasm

increased carcinoma incidence ( J:238262 )

• dysplastic/neoplastic rectal lesions range from moderate to high grade dysplasia, intra-epithelial neoplasia, and well-differentiated invasive rectal carcinoma

• mice with rectal prolapse frequently show thickened and proliferative rectum/rectal-colonic junction, forming moderate well differentiated micro-adenomatous to sessile proliferations with architectural and/or cytological atypia, visible mitosis, glandular herniation and invasion

• invasive glands are frequently cystic with indistinct basement membrane and often partially lined by epithelium filled with mucous and denuded ghost cells

• hepatomas and hepatocellular carcinomas are not seen