Phenotypes associated with this allele

• Allele Symbol: Apc^tm1Rsmi
• Allele Name: targeted mutation 1, Ron Smits
• Allele ID: MGI:3848479
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Apc^tm1Rsmi/Apc^tm1Rsmi	involves: 129P2/OlaHsd	MGI:3848496
cn2	Apc^tm1Rsmi/Apc^tm1Rsmi Pgr^tm2(cre)Lyd/Pgr^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5583019
cn3	Apc^tm1Rsmi/Apc^+ Ctnnb1^tm1Wvv/Ctnnb1^+ Tg(Fabp1-cre)1Jig/?	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:5430612
cn4	Apc^tm1Rsmi/Apc^tm1Rsmi Tg(Col2a1-cre)1Rsjo/0	involves: 129P2/OlaHsd * FVB/N	MGI:3848497
cn5	Apc^tm1Rsmi/Apc^+ Tg(Fabp1-cre)1Jig/0	involves: 129P2/OlaHsd * FVB/N	MGI:4456428

Genotype
MGI:3848496

hm1

• Allelic Composition: Apc^tm1Rsmi/Apc^tm1Rsmi
• Genetic Background: involves: 129P2/OlaHsd

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

normal phenotype

no abnormal phenotype detected ( J:149225 )

• mice exhibit no abnormalities

neoplasm

neoplasm ( J:149225 )

N • mice exhibit no susceptibility to tumors

Genotype
MGI:5583019

cn2

• Allelic Composition: Apc^tm1Rsmi/Apc^tm1Rsmi; Pgr^tm2(cre)Lyd/Pgr⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

neoplasm

increased reproductive system tumor incidence ( J:210095 )

• 62.5% of mice develop endometrioid tubal tumors in distal and fimbrial parts of the oviduct showing severe nuclear atypia, subnuclear vacuolization, abnormal proliferation, complete loss of normal oviduct architecture and compression of the lumen

• tumors resemble human endometrioid tubal cancer

increased ovary tumor incidence ( J:210095 )

• 27.9% of mice develop endometrioid ovarian tumors which may originate form the endometrioid ovarian cysts, resembling human endometrioid ovarian cancer

increased granulosa cell tumor incidence ( J:210095 )

• 1 of 43 mice develop a granulosa cell tumor which is distinct from the endometrioid tubal cancer

reproductive system

increased reproductive system tumor incidence ( J:210095 )

• 62.5% of mice develop endometrioid tubal tumors in distal and fimbrial parts of the oviduct showing severe nuclear atypia, subnuclear vacuolization, abnormal proliferation, complete loss of normal oviduct architecture and compression of the lumen

• tumors resemble human endometrioid tubal cancer

increased ovary tumor incidence ( J:210095 )

• 27.9% of mice develop endometrioid ovarian tumors which may originate form the endometrioid ovarian cysts, resembling human endometrioid ovarian cancer

increased granulosa cell tumor incidence ( J:210095 )

• 1 of 43 mice develop a granulosa cell tumor which is distinct from the endometrioid tubal cancer

abnormal internal female genitalia morphology ( J:210095 )

• 9.4% of mice show extraovarian endometrioid lesions within the utero-ovarian ligament, next to the tubal and ovarian tumors

ovary cyst ( J:210095 )

• 16.3% of mice show ovarian endometrioid cysts, mostly in younger mice

abnormal oviduct morphology ( J:210095 )

• 87.2% of mice exhibit tubular intraepithelial lesions in the epithelium of the distal oviduct and fimbriae

• lesions show loss of cilia, bulging of cells into the lumen, layering and suspicious stratification of cells, and rounding and hyperchromatization of the nucleus

• 20% of mice develop glandular transformation of the normal papillary architecture of the oviduct characterized by glandular growth, loss of cilia, and general loss of normal cellular morphology

endometrium hyperplasia ( J:210095 )

• presence of extraovarian endometrioid lesions coincide with lesions found in the oviduct and ovary

endocrine/exocrine glands

increased ovary tumor incidence ( J:210095 )

• 27.9% of mice develop endometrioid ovarian tumors which may originate form the endometrioid ovarian cysts, resembling human endometrioid ovarian cancer

increased granulosa cell tumor incidence ( J:210095 )

• 1 of 43 mice develop a granulosa cell tumor which is distinct from the endometrioid tubal cancer

ovary cyst ( J:210095 )

• 16.3% of mice show ovarian endometrioid cysts, mostly in younger mice

growth/size/body

ovary cyst ( J:210095 )

• 16.3% of mice show ovarian endometrioid cysts, mostly in younger mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:210095

Genotype
MGI:5430612

cn3

• Allelic Composition: Apc^tm1Rsmi/Apc⁺; Ctnnb1^tm1Wvv/Ctnnb1⁺; Tg(Fabp1-cre)1Jig/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

neoplasm

increased gastrointestinal tumor incidence ( J:185942 )

• significantly increased tumor load in the intestine of males but not females compared to heterozygous Apc^tm1Ecrm

• tumors in both the ilium and colon but smaller in size than in heterozygous Apc^tm1Ecrm

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:185942 )

• significantly increased tumor load in the intestine of males but not females compared to heterozygous Apc^tm1Ecrm

• tumors in both the ilium and colon but smaller in size than in heterozygous Apc^tm1Ecrm

Genotype
MGI:3848497

cn4

• Allelic Composition: Apc^tm1Rsmi/Apc^tm1Rsmi; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

Skeletogenesis is severely impaired in Apc^tm1Rsmi/Apc^tm1Rsmi Tg(Col2a1-cre)1Rsjo/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:149225 )

• no mice survive to one month of age

perinatal lethality, incomplete penetrance ( J:149225 )

• most mice die by the first day after birth

skeleton

abnormal cranium morphology ( J:149225 )

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal mandible morphology ( J:149225 )

• at E12.5

abnormal humerus morphology ( J:149225 )

• no chondrogenic and osteogenic differentiation occurs in the humerus

scapular bone hypoplasia ( J:149225 )

absent sternum ( J:149225 )

abnormal rib morphology ( J:149225 )

• ribs are characterized by inadequate orientation, size, and shape unlike in wild-type mice

• proximal ribs are severely misshapen compared to in wild-type mice

short ribs ( J:149225 )

• at E16.5, ribs are thicker and shorter than normal

abnormal chondrocyte morphology ( J:149225 )

• at E16.5, chondrocytes in the nasal septum and endochondral bone dedifferentiate unlike in wild-type mice

abnormal skeleton development ( J:149225 )

• at E12.5, the axial skeleton contains patchy and irregular cartilaginous structures that do not organize in vertebrae unlike in wild-type mice

• no chondrogenic and osteogenic differentiation occurs in the humerus

• no cartilaginous primordial of the pelvic bone are observed unlike in wild-type mice

• based on marker expression, differentiation of skeletal precursors in long bones and vertebrae is inhibited while osteoblastogenesis in the proximal ribs is enhanced

enhanced osteoblast differentiation ( J:149225 )

• osteoblastogenesis in the proximal ribs is enhanced

abnormal cartilage development ( J:149225 )

• mice fail to develop a cartilaginous molds of both the mandibles and occipital bone unlike in wild-type mice

abnormal bone mineralization ( J:149225 )

• at E16.5, mineralization of proximal ribs is enhanced compared to in wild-type mice

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal endochondral bone ossification ( J:149225 )

• all endochondral bones are misshaped and lack structural integrity unlike in wild-type mice

limbs/digits/tail

abnormal forelimb morphology ( J:149225 )

• forelimbs are severely truncated with distorted cartilage rudiments unlike in wild-type mice

• distal forelimb structures are agenetic and replaced with irregular cartilaginous structure

abnormal humerus morphology ( J:149225 )

• no chondrogenic and osteogenic differentiation occurs in the humerus

short forelimb ( J:149225 )

• forelimbs are severely truncated

abnormal hindlimb morphology ( J:149225 )

• severely truncated and fail to form bone

short hindlimb ( J:149225 )

• hindlimbs are severely truncated

abnormal limb development ( J:149225 )

• at E12.5, mice display limb outgrowth abnormalities

growth/size/body

abnormal abdominal wall morphology ( J:149225 )

• at E14.5 and E16.5, the abdominal cavity is open unlike in wild-type mice

abnormal thoracic cavity morphology ( J:149225 )

• at E14.5 and E16.5, the thoracic cavity is open unlike in wild-type mice

• the thoracic basket fails to form

decreased body length ( J:149225 )

• at E14.5 and E16.5

decreased fetal size ( J:149225 )

• at E14.5 and E16.5

craniofacial

abnormal craniofacial morphology ( J:149225 )

• at E14.5 and E16.5

abnormal cranium morphology ( J:149225 )

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal mandible morphology ( J:149225 )

• at E12.5

integument

blistering ( J:149225 )

• at E14.5 and at E16.5, mice develop large skin blisters especially on dorso-lumbar regions unlike in wild-type mice

cellular

enhanced osteoblast differentiation ( J:149225 )

• osteoblastogenesis in the proximal ribs is enhanced

Genotype
MGI:4456428

cn5

• Allelic Composition: Apc^tm1Rsmi/Apc⁺; Tg(Fabp1-cre)1Jig/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

increased tumor-free survival time ( J:159883 )

• mice succumb to intestinal tumors later than Apc^tm1.1Ecrm

neoplasm

increased gastrointestinal tumor incidence ( J:159883 )

• mice develop intestinal tumors unlike wild-type mice with later premature death and fewer tumors than Apc^tm1.1Ecrm heterozygotes

• intestinal tumors develop predominantly in the large intestine that are larger than in Apc^tm1.1Ecrm heterozygotes

• large intestine tumors are pedunculated (polypoid) or sessile

increased intestinal adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased large intestine adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased small intestine adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased intestinal adenoma incidence ( J:159883 )

• low and high grade

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:159883 )

• mice develop intestinal tumors unlike wild-type mice with later premature death and fewer tumors than Apc^tm1.1Ecrm heterozygotes

• intestinal tumors develop predominantly in the large intestine that are larger than in Apc^tm1.1Ecrm heterozygotes

• large intestine tumors are pedunculated (polypoid) or sessile

increased intestinal adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased large intestine adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased small intestine adenocarcinoma incidence ( J:159883 )

• intestinal tumors develop predominantly in the large intestine

increased intestinal adenoma incidence ( J:159883 )

• low and high grade

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
colorectal cancer		DOID:9256	OMIM:114500	J:159883