All Phenotypes C1galt1<tm1.1Rpmc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Mgat1^tm2Jxm/Mgat1^tm2Jxm Tg(Zp3-cre)1Gwh/?	involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6	MGI:3714054
cn2	C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Zp3-cre)1Gwh/?	involves: 129S1/Sv * 129S1/SvImJ * C57BL/6	MGI:3714053
cn3	C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Mgat1^tm2Jxm/Mgat1^tm2Jxm Tg(Zp3-cre)1Gwh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5816473
cn4	B3gnt6^tm1Lx/B3gnt6^tm1Lx C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Vil1-cre/ERT2)23Syr/0	involves: 129S1/Sv * C57BL/6 * C57BL/6J * DBA/2	MGI:5902497
cn5	B3gnt6^tm1Lx/B3gnt6^tm1Lx C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Vil1-cre)997Gum/0	involves: 129S1/Sv * C57BL/6J * SJL	MGI:5902495

Allelic Composition	C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Mgat1^tm2Jxm/Mgat1^tm2Jxm Tg(Zp3-cre)1Gwh/?
Genetic Background	involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1galt1^tm1.1Rpmc mutation (1 available); any C1galt1 mutation (24 available)
Mgat1^tm2Jxm mutation (1 available); any Mgat1 mutation (18 available)
Tg(Zp3-cre)1Gwh mutation (1 available)

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

cellular

decreased oocyte number ( J:122012 )

• superovulated females produce 50% less oocytes and following the termination of mating females did not produce any oocytes when superovulated

reproductive system

decreased oocyte number ( J:122012 )

• superovulated females produce 50% less oocytes and following the termination of mating females did not produce any oocytes when superovulated

abnormal ovarian follicle morphology ( J:122012 )

• fewer developing follicles in ovaries at 3 to 6 months

reduced female fertility ( J:122012 )

• only 3 of 10 females produced a litter and did not produce any subsequent litters

decreased litter size ( J:122012 )

• females produce smaller litters

endocrine/exocrine glands

abnormal ovarian follicle morphology ( J:122012 )

• fewer developing follicles in ovaries at 3 to 6 months

Allelic Composition	C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Zp3-cre)1Gwh/?
Genetic Background	involves: 129S1/Sv * 129S1/SvImJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1galt1^tm1.1Rpmc mutation (1 available); any C1galt1 mutation (24 available)
Tg(Zp3-cre)1Gwh mutation (1 available)

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

cardiovascular system

abnormal angiogenesis ( J:122012 )

• at E11.5 and becomes more severe at E12.5

hemorrhage ( J:122012 )

• at E11.5 and becomes more severe at E12.5

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

mortality/aging

premature ovarian failure ( J:173879 )

• females exhibit premature loss of fertility

reproductive system

abnormal zona pellucida morphology ( J:173879 )

• some oocytes within multiple-oocyte follicles at 3 weeks of age lack a zona pollucida and associated granulosa cells

abnormal ovary morphology ( J:173879 )

• stromal cells of 3 month old ovaries are luteinized and look more like the cells of corpus lutea than stroma

abnormal corpus luteum morphology ( J:173879 )

• the majority of ovaries lack normal corpora lutea at 3 months

abnormal ovarian follicle morphology ( J:173879 )

• joined follicles are present in 3 week old ovaries, as indicated by the fold of basal lamina and theca cells that partially separates two connected follicles

• by 6 weeks of age, females have more follicular abnormalities and have fewer follicles

• numerous oocytes lacking cumulus cells are seen in follicles at 6 weeks of age

abnormal granulosa cell morphology ( J:173879 )

• some oocytes within multiple-oocyte follicles at 3 weeks of age lack a zona pollucida and associated granulosa cells

• oocytes that lack associated granulosa cells but have a zona pellucida are also seen at 6 weeks of age

• granulosa cells are visible beneath the oocyte zona pellucida in follicles at 3 weeks of age, representing either abnormal follicle development or granulosa cell invasion

abnormal ovarian follicle number ( J:173879 )

• by 3 months of age, ovaries contain fewer growing follicles, with fewer secondary, preantral, and antral follicles

• however, the total number of follicles is similar to controls, due to increased numbers of primary follicles at the 3a stage

increased primary ovarian follicle number ( J:173879 )

• increase in numbers of primary follicles at the 3a stage

abnormal ovarian folliculogenesis ( J:173879 )

• ovaries have decreased follicle development at 3 months of age

abnormal tertiary ovarian follicle morphology ( J:173879 )

• large antral follicles at 6 weeks have an irregular follicle boundary and contain granulosa cells with an asymmetric distribution

decreased tertiary ovarian follicle number ( J:173879 )

• fewer antral follicles in ovaries at 3 months of age

polyovular ovarian follicle ( J:173879 )

• ovaries of 3 week old mice contain multiple-oocyte follicles

decreased ovary weight ( J:173879 )

• at 3 months of age

abnormal ovary secretion ( J:173879 )

• ovaries from 3 month old mice contain abnormal leuteinized-like cells that express 3beta-HSD, the enzyme required to convert pregnenalone to progesterone, indicating that these cells secrete progesterone

premature ovarian failure ( J:173879 )

• females exhibit premature loss of fertility

decreased superovulation rate ( J:173879 )

• at 7 weeks of age, the number of eggs ovulated by females in response to the superovulatory stimulus is less than 10% of controls and by 11 week, the ovulation rate falls to less than 1%

• ovulation of eggs is restricted to the period before 3 months of age

female infertility ( J:173879 )

• females are infertile at 3 months of age

reduced female fertility ( J:173879 )

• females exhibit decreased fertility at 6 weeks and are infertile at 3 months of age

endocrine/exocrine glands

abnormal ovary morphology ( J:173879 )

• stromal cells of 3 month old ovaries are luteinized and look more like the cells of corpus lutea than stroma

abnormal corpus luteum morphology ( J:173879 )

• the majority of ovaries lack normal corpora lutea at 3 months

abnormal ovarian follicle morphology ( J:173879 )

• joined follicles are present in 3 week old ovaries, as indicated by the fold of basal lamina and theca cells that partially separates two connected follicles

• by 6 weeks of age, females have more follicular abnormalities and have fewer follicles

• numerous oocytes lacking cumulus cells are seen in follicles at 6 weeks of age

abnormal granulosa cell morphology ( J:173879 )

• some oocytes within multiple-oocyte follicles at 3 weeks of age lack a zona pollucida and associated granulosa cells

• oocytes that lack associated granulosa cells but have a zona pellucida are also seen at 6 weeks of age

• granulosa cells are visible beneath the oocyte zona pellucida in follicles at 3 weeks of age, representing either abnormal follicle development or granulosa cell invasion

abnormal ovarian follicle number ( J:173879 )

• by 3 months of age, ovaries contain fewer growing follicles, with fewer secondary, preantral, and antral follicles

• however, the total number of follicles is similar to controls, due to increased numbers of primary follicles at the 3a stage

increased primary ovarian follicle number ( J:173879 )

• increase in numbers of primary follicles at the 3a stage

abnormal ovarian folliculogenesis ( J:173879 )

• ovaries have decreased follicle development at 3 months of age

abnormal tertiary ovarian follicle morphology ( J:173879 )

• large antral follicles at 6 weeks have an irregular follicle boundary and contain granulosa cells with an asymmetric distribution

decreased tertiary ovarian follicle number ( J:173879 )

• fewer antral follicles in ovaries at 3 months of age

polyovular ovarian follicle ( J:173879 )

• ovaries of 3 week old mice contain multiple-oocyte follicles

decreased ovary weight ( J:173879 )

• at 3 months of age

abnormal ovary secretion ( J:173879 )

premature ovarian failure ( J:173879 )

• females exhibit premature loss of fertility

homeostasis/metabolism

abnormal hormone level ( J:173879 )

• decrease in circulating inhibin A levels

decreased circulating testosterone level ( J:173879 )

• testosterone levels are decreased

• however, estradiol, progesterone, and leuteinizing hormone levels are normal

increased circulating follicle stimulating hormone level ( J:173879 )

cellular

abnormal zona pellucida morphology ( J:173879 )

• some oocytes within multiple-oocyte follicles at 3 weeks of age lack a zona pollucida and associated granulosa cells

Allelic Composition	B3gnt6^tm1Lx/B3gnt6^tm1Lx C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Vil1-cre/ERT2)23Syr/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * C57BL/6J * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B3gnt6^tm1Lx mutation (0 available); any B3gnt6 mutation (13 available)
C1galt1^tm1.1Rpmc mutation (1 available); any C1galt1 mutation (24 available)
Tg(Vil1-cre/ERT2)23Syr mutation (1 available)

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

digestive/alimentary system

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• mice injected with tamoxifen at 1.5- to 4-months of age develop spontaneous duodenal tumors between 12 and 24 months of age, exhibiting mostly proliferative epithelium

increased duodenum adenocarcinoma incidence ( J:239765 )

• tumors in tamoxifen-injected mice are aggressive and advance to adenocarcinoma

neoplasm

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• mice injected with tamoxifen at 1.5- to 4-months of age develop spontaneous duodenal tumors between 12 and 24 months of age, exhibiting mostly proliferative epithelium

increased duodenum adenocarcinoma incidence ( J:239765 )

• tumors in tamoxifen-injected mice are aggressive and advance to adenocarcinoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
duodenum cancer		DOID:10021		J:23965

Allelic Composition	B3gnt6^tm1Lx/B3gnt6^tm1Lx C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Vil1-cre)997Gum/0
Genetic Background	involves: 129S1/Sv * C57BL/6J * SJL

Find Mice

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

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:239765 )

• duodenal mucosa is slightly thicker at 5 months of age

abnormal small intestine morphology ( J:239765 )

• moderate thickening in different regions of the small intestinal tract is seen in a subset of mutants that are 12-20 months of age

• thickening of the small intestine is most pronounced in the proximal duodenum

abnormal duodenum morphology ( J:239765 )

• loss of acidic glycans, such as sialic acid and sulfated mucin, and presence of neutral structures, such as Tn antigen in duodenal mucosa

• little secreted mucus is seen in luminal regions or between villi of 5 month old mice

• duodenal mucosa is slightly thicker and the villi wider at 5 months of age

• administration of broad spectrum antibiotics does not increase luminal mucus in the duodenum and does not increase villus spacing

abnormal duodenum crypts of Lieberkuhn morphology ( J:239765 )

• expansion in the proliferative zone of the duodenal crypt in 4 and 8 month old mice

duodenal lesions ( J:239765 )

• numerous lesions within the first 2 cm of the duodenum; these regions are composed of hyperplastic duodenal mucosa overlaying submucosal Brunners glands

• lesions are devoid of villous structures and contain dysplastic epithelium, suggesting adenomatous polyps

abnormal ileum morphology ( J:239765 )

• 30% of mice exhibit thickening in the terminal ileum, although no tumor development is seen in this region

abnormal small intestinal villus morphology ( J:239765 )

• villi are less spaced apart than in wild-type mice and are usually adherent to each other

• duodenal villi are wider at 5 months of age

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• approximately 27% of mice develop spontaneous duodenal tumors, with an average of 4 lesions per mouse, by about 1 year of age

• tumors are epithelial cell-derived

• tumor incidence does not increase with age but aggressiveness of tumors increases over time

small intestinal inflammation ( J:239765 )

• modest spontaneous duodenal inflammation at 5 months of age, with a modest influx of polymorphonuclear cells and leukocytes into the mucosa

endocrine/exocrine glands

abnormal duodenum crypts of Lieberkuhn morphology ( J:239765 )

• expansion in the proliferative zone of the duodenal crypt in 4 and 8 month old mice

immune system

small intestinal inflammation ( J:239765 )

• modest spontaneous duodenal inflammation at 5 months of age, with a modest influx of polymorphonuclear cells and leukocytes into the mucosa

neoplasm

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• approximately 27% of mice develop spontaneous duodenal tumors, with an average of 4 lesions per mouse, by about 1 year of age

• tumors are epithelial cell-derived

• tumor incidence does not increase with age but aggressiveness of tumors increases over time

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
duodenum cancer		DOID:10021		J:239765

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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