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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ihhtm1Amc
targeted mutation 1, Andrew P McMahon
MGI:1934258
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ihhtm1Amc/Ihhtm1Amc involves: 129S1/Sv * 129X1/SvJ MGI:3584176
hm2
Ihhtm1Amc/Ihhtm1Amc involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3818883
hm3
Ihhtm1Amc/Ihhtm1Amc involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J MGI:3584475
ht4
Ihhtm1Amc/Ihh+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3584274
cn5
Ihhtm1Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB MGI:3584276
cn6
Ihhtm1Amc/Ihhtm2Amc
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB MGI:3584278
cn7
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
involves: 129S1/Sv * 129X1/SvJ MGI:4414674
cn8
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
involves: 129S1/Sv * 129X1/SvJ MGI:5311114
cn9
Gli3Xt-J/Gli3Xt-J
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ MGI:4414675
cx10
Ihhtm1Amc/Ihhtm1Amc
Shhtm1Amc/Shhtm1Amc
involves: 129/Sv * C57BL/6J * CBA/J MGI:3584477
cx11
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
involves: 129S1/Sv * 129X1/SvJ MGI:4414677
cx12
Gli3Xt-J/Gli3Xt-J
Ihhtm1Amc/Ihhtm1Amc
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ MGI:4414676
cx13
Ihhtm1Amc/Ihhtm1Amc
Shhtm1Chg/Shhtm1Chg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3818879


Genotype
MGI:3584176
hm1
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at birth, homozygotes show a foreshortened snout (J:57297)
• at birth, homozygotes show a foreshortened snout (J:57297)
• at birth, homozygotes are consistently shorter than wild-type mice (J:57297)
• at birth, homozygotes are consistently shorter than wild-type mice (J:57297)
• at birth mutants display severe short-limb dwarfism (J:89228)
• at birth mutants display severe short-limb dwarfism (J:89228)

skeleton
• in homozygotes, most skeletal elements are present in the right position and in the right number; however, all elements of the axial and appendicular skeletons exhibit dwarfism (J:57297)
• in homozygotes, most skeletal elements are present in the right position and in the right number; however, all elements of the axial and appendicular skeletons exhibit dwarfism (J:57297)
• at 18.5 dpc, some of the wrist bones of homozygotes appear partly fused (J:57297)
• at 18.5 dpc, some of the wrist bones of homozygotes appear partly fused (J:57297)
• mutant long bones fail to show any signs of calcification at 14.5 dpc, as expected; instead, calcification is first noted at 16.5 dpc in mutant scapula and humerus, and slightly later in radius and ulna (J:57297)
• mutant long bones fail to show any signs of calcification at 14.5 dpc, as expected; instead, calcification is first noted at 16.5 dpc in mutant scapula and humerus, and slightly later in radius and ulna (J:57297)
• depletion of non-mineralized cartilage at articular ends of long bones (J:73071)
• depletion of non-mineralized cartilage at articular ends of long bones (J:73071)
• at 18.5 dpc, the mutant humerus and ulna remain partly fused (J:57297)
• at 18.5 dpc, mutant humeri display no identifiable cortical bone, even in vascularized areas of the perichondrium (J:57297)
• at 18.5 dpc, the mutant humerus and ulna remain partly fused (J:57297)
• at 18.5 dpc, mutant humeri display no identifiable cortical bone, even in vascularized areas of the perichondrium (J:57297)
• at birth, mutant long bones are one-third the length of wild-type long bones (J:57297)
• at birth, mutant long bones are one-third the length of wild-type long bones (J:57297)
• growth retardation of tibia (J:73071)
• growth retardation of tibia (J:73071)
• length of scapula is shorter (J:73071)
• length of scapula is shorter (J:73071)
• at birth, homozygotes display a foreshortened mandible (J:57297)
• at birth, homozygotes display a foreshortened mandible (J:57297)
• at birth, homozygotes show a rounded skull (J:57297)
• at birth, homozygotes show a rounded skull (J:57297)
• mutant ribs do not display excessive calcification (J:57297)
• mutant ribs do not display excessive calcification (J:57297)
• homozygotes have significantly shortened ribs (J:57297)
• homozygotes have significantly shortened ribs (J:57297)
• at 18.5 dpc, homozygotes show no osteocalcin expression in endochondral bones of the appendicular or axial skeleton, indicating absence of mature osteoblasts in mutant long bones (J:57297)
• in contrast, mature osteoblasts are present in mutant bones formed by intramembranous ossification (e.g. flat bones of the skull, mandible, and clavicle) (J:57297)
• at 18.5 dpc, homozygotes show no osteocalcin expression in endochondral bones of the appendicular or axial skeleton, indicating absence of mature osteoblasts in mutant long bones (J:57297)
• in contrast, mature osteoblasts are present in mutant bones formed by intramembranous ossification (e.g. flat bones of the skull, mandible, and clavicle) (J:57297)
• 18.5 dpc, mutant humeri display no identifiable trabecular bone in the primary spongiosa (J:57297)
• 18.5 dpc, mutant humeri display no identifiable trabecular bone in the primary spongiosa (J:57297)
• homozygotes display ectopic maturation of chondrocytes: chondrocyte differentiation is initially delayed, but when it occurs, hypertrophic cells fail to exhibit a stacked columnar organization and occupy inappropriate positions close to articular surfaces (J:57297)
• homozygotes display ectopic maturation of chondrocytes: chondrocyte differentiation is initially delayed, but when it occurs, hypertrophic cells fail to exhibit a stacked columnar organization and occupy inappropriate positions close to articular surfaces (J:57297)
• premature chondrocyte hypertrophy, resulting in depletion of non-mineralized cartilage at articular ends of long bones (J:73071)
• decrease in chondrocyte proliferation at E14.5 (J:73071)
• premature chondrocyte hypertrophy, resulting in depletion of non-mineralized cartilage at articular ends of long bones (J:73071)
• decrease in chondrocyte proliferation at E14.5 (J:73071)
• at 18.5 dpc, homozygotes show abnormal joint formation (J:57297)
• at 18.5 dpc, homozygotes show abnormal joint formation (J:57297)
• skeletal growth retardation (J:73071)
• skeletal growth retardation (J:73071)
• although initial cartilage elements develop normally, 13.5-dpc mutant forelimbs show a slight reduction in each cartilage element relative to wild-type; this size difference is clearly visible at 14.5 dpc (J:57297)
• although initial cartilage elements develop normally, 13.5-dpc mutant forelimbs show a slight reduction in each cartilage element relative to wild-type; this size difference is clearly visible at 14.5 dpc (J:57297)
• as early as 12.5 dpc, mutant humeri show a ~50% reduction in chondrocyte proliferation; in addition, the length of proliferative zone is severely reduced (J:57297)
• as early as 12.5 dpc, mutant humeri show a ~50% reduction in chondrocyte proliferation; in addition, the length of proliferative zone is severely reduced (J:57297)
• at 13.5 dpc, mutant humeri show absence of typical hypertrophic chondrocytes (J:57297)
• at 14.5 dpc, some hypertrophic cells are found in the center of mutant humeri but are neither as large nor as well-organized as those of wild-type bones (J:57297)
• such hypertrophic cells are surrounded by less mature chondrocytes and show no signs of vascularization or cortical bone formation (J:57297)
• at 13.5 dpc, mutant humeri show absence of typical hypertrophic chondrocytes (J:57297)
• at 14.5 dpc, some hypertrophic cells are found in the center of mutant humeri but are neither as large nor as well-organized as those of wild-type bones (J:57297)
• such hypertrophic cells are surrounded by less mature chondrocytes and show no signs of vascularization or cortical bone formation (J:57297)
• reduced chondrocyte proliferation and severe short-limb dwarfism are seen (J:89228)
• reduced chondrocyte proliferation and severe short-limb dwarfism are seen (J:89228)
• in homozygotes, appendicular skeletal elements fail to ossify (J:57297)
• in homozygotes, appendicular skeletal elements fail to ossify (J:57297)
• at 16.5 dpc, mutant humeri show ectopic initial calcification in the center of cartilage only, suggesting that mineralization occurs in cartilage and not in association with a bone collar (J:57297)
• by 18.5 dpc, ectopic calcification extends closer to the articular surfaces in mutant bones, including the humerus, sternum, vertebrae, and cartilaginous synchondroses of the base of the skull (J:57297)
• at 16.5 dpc, mutant humeri show ectopic initial calcification in the center of cartilage only, suggesting that mineralization occurs in cartilage and not in association with a bone collar (J:57297)
• by 18.5 dpc, ectopic calcification extends closer to the articular surfaces in mutant bones, including the humerus, sternum, vertebrae, and cartilaginous synchondroses of the base of the skull (J:57297)
• homozygotes exhibit absence of endochondral bone formation prior to birth (J:57297)
• in homozygous newborns, most endochondral bones are shorter and relatively malformed (J:57297)
• homozygotes exhibit absence of endochondral bone formation prior to birth (J:57297)
• in homozygous newborns, most endochondral bones are shorter and relatively malformed (J:57297)

limbs/digits/tail
• homozygotes display failure of digit segmentation: at 18.5 dpc, mutant digits remain unsegmented and uncalcified (J:57297)
• homozygotes display failure of digit segmentation: at 18.5 dpc, mutant digits remain unsegmented and uncalcified (J:57297)
• failure of digit segmentation and ossification (J:73071)
• failure of digit segmentation and ossification (J:73071)
• at 13.5 dpc, homozygotes display visibly shortened forelimbs (J:57297)
• at 13.5 dpc, homozygotes display visibly shortened forelimbs (J:57297)
• at 18.5 dpc, the mutant humerus and ulna remain partly fused (J:57297)
• at 18.5 dpc, mutant humeri display no identifiable cortical bone, even in vascularized areas of the perichondrium (J:57297)
• at 18.5 dpc, the mutant humerus and ulna remain partly fused (J:57297)
• at 18.5 dpc, mutant humeri display no identifiable cortical bone, even in vascularized areas of the perichondrium (J:57297)
• growth retardation of tibia (J:73071)
• growth retardation of tibia (J:73071)
• at 18.5 dpc, some of the wrist bones of homozygotes appear partly fused (J:57297)
• at 18.5 dpc, some of the wrist bones of homozygotes appear partly fused (J:57297)
• at 13.5 dpc, homozygotes display visibly shortened forelimbs (J:57297)
• at birth, homozygotes display significant dwarfism of the limbs (J:57297)
• at 13.5 dpc, homozygotes display visibly shortened forelimbs (J:57297)
• at birth, homozygotes display significant dwarfism of the limbs (J:57297)
• 60-80% reduction in the length of the stylopod and the zeugopod at birth (J:73071)
• 60-80% reduction in the length of the stylopod and the zeugopod at birth (J:73071)

vision/eye
N
• no rosettes are observed in the retina (J:78708)
• no rosettes are observed in the retina (J:78708)
• astrocyte precursor cells at the optic disc and in the optic nerve develop normally (J:83530)
• astrocyte precursor cells at the optic disc and in the optic nerve develop normally (J:83530)

mortality/aging
• homozygotes that develop to term die at birth due to respiratory failure (J:57297)
• homozygotes that develop to term die at birth due to respiratory failure (J:57297)
• about 50% of homozygotes die at midgestation between 10.5 and 12.5 dpc, probably as a result of circulatory defects (J:57297)
• some lethality also occurs at later stages of gestation (J:57297)
• about 50% of homozygotes die at midgestation between 10.5 and 12.5 dpc, probably as a result of circulatory defects (J:57297)
• some lethality also occurs at later stages of gestation (J:57297)

craniofacial
• at birth, homozygotes display a foreshortened mandible (J:57297)
• at birth, homozygotes display a foreshortened mandible (J:57297)
• at birth, homozygotes show a rounded skull (J:57297)
• at birth, homozygotes show a rounded skull (J:57297)
• at birth, homozygotes show a foreshortened snout (J:57297)
• at birth, homozygotes show a foreshortened snout (J:57297)

respiratory system




Genotype
MGI:3818883
hm2
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• yolk sacs have fewer and thinner blood vessels compared to wild-type at E9.5 (J:128367)
• yolk sacs have fewer and thinner blood vessels compared to wild-type at E9.5 (J:128367)

cardiovascular system
• yolk sacs have fewer and thinner blood vessels compared to wild-type at E9.5 (J:128367)
• yolk sacs have fewer and thinner blood vessels compared to wild-type at E9.5 (J:128367)




Genotype
MGI:3584475
hm3
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
N
• at 18.5 dpc, homozygotes exhibit no intestinal transformation of the stomach epithelium (J:62158)
• at 18.5 dpc, homozygotes exhibit no intestinal transformation of the stomach epithelium (J:62158)
• at 18.5 dpc, homozygotes display a smaller gastrointestinal tract relative to wild-type (J:62158)
• at 18.5 dpc, homozygotes display a smaller gastrointestinal tract relative to wild-type (J:62158)
• at 18.5 dpc, all homozygotes display an obvious malrotation of the gut, in the absence of reversions in gut situs (J:62158)
• at 18.5 dpc, all homozygotes display an obvious malrotation of the gut, in the absence of reversions in gut situs (J:62158)
• at 18.5 dpc, homozygotes display a significant dilation of parts of the colon as well as a thin wall (J:62158)
• at 18.5 dpc, homozygotes display a significant dilation of parts of the colon as well as a thin wall (J:62158)
• at 18.5 dpc, 50% of homozygotes display an aganglionic megacolon (J:62158)
• at 18.5 dpc, 50% of homozygotes display an aganglionic megacolon (J:62158)
• at 18.5 dpc, homozygotes show a significant dilation of the small intestine (J:62158)
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine (J:62158)
• at this stage, the size of mutant villi is markedly reduced concomitant with a 54% decrease in epithelial stem cell proliferation between and at the base of villi (J:62158)
• at 18.5 dpc, homozygotes show a significant dilation of the small intestine (J:62158)
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine (J:62158)
• at this stage, the size of mutant villi is markedly reduced concomitant with a 54% decrease in epithelial stem cell proliferation between and at the base of villi (J:62158)
• at 18.5 dpc, homozygotes show a 45% reduction in the number of cholecystokinin-producing cells of the duodenum (J:62158)
• at 18.5 dpc, no duodenal stenosis is observed (J:62158)
• at 18.5 dpc, homozygotes show a 45% reduction in the number of cholecystokinin-producing cells of the duodenum (J:62158)
• at 18.5 dpc, no duodenal stenosis is observed (J:62158)

growth/size/body
• at 18.5 dpc, mutant embryos have an overall reduced size relative to wild-type embryos (J:62158)
• at 18.5 dpc, mutant embryos have an overall reduced size relative to wild-type embryos (J:62158)

nervous system
• at 18.5 dpc, enteric neurons are completely absent along parts of the small intestine and in dilated portions of the colon (J:62158)
• at 18.5 dpc, enteric neurons are completely absent along parts of the small intestine and in dilated portions of the colon (J:62158)

endocrine/exocrine glands
• at 18.5 dpc, 43% of homozygotes exhibit an annular pancreas (J:62158)
• at 18.5 dpc, 43% of homozygotes exhibit an annular pancreas (J:62158)

muscle
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine (J:62158)
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine (J:62158)

Mouse Models of Human Disease
OMIM ID Ref(s)
Pancreas, Annular 167750 J:62158




Genotype
MGI:3584274
ht4
Allelic
Composition
Ihhtm1Amc/Ihh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• modest shortening of the growth plate (J:99641)
• modest shortening of the growth plate (J:99641)




Genotype
MGI:3584276
cn5
Allelic
Composition
Ihhtm1Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (2 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (2 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• growth plate is expanded, however less than in compound heterozygous mice that contain Ihh (J:99641)
• growth plate is expanded, however less than in compound heterozygous mice that contain Ihh (J:99641)




Genotype
MGI:3584278
cn6
Allelic
Composition
Ihhtm1Amc/Ihhtm2Amc
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Ihhtm2Amc mutation (0 available); any Ihh mutation (3 available)
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (2 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (2 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• ectopic hypertrophic differentiation in growth plates, however do not observe elongation of the columnar region (J:99641)
• ectopic hypertrophic differentiation in growth plates, however do not observe elongation of the columnar region (J:99641)




Genotype
MGI:4414674
cn7
Allelic
Composition
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm2(Gli2*)Flng mutation (0 available); any Gt(ROSA)26Sor mutation (305 available)
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Tg(Col2a1-cre)3Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die at birth (J:154905)
• mice die at birth (J:154905)

skeleton
N
• vascularization and bone formation in the diaphysis are normal (J:154905)
• vascularization and bone formation in the diaphysis are normal (J:154905)
• similar to in Ihhtm1Amc homozygotes, orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• similar to in Ihhtm1Amc homozygotes, orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• at E15.5 and E18.5, the proliferative zone is slightly larger than in Ihhtm1Amc homozygotes but smaller than in wild-type mice (J:154905)
• at E15.5 and E18.5, the proliferative zone is slightly larger than in Ihhtm1Amc homozygotes but smaller than in wild-type mice (J:154905)
• vascularization of the hypertrophic zone is improved compared to in Ihhtm1Amc homozygotes (J:154905)
• vascularization of the hypertrophic zone is improved compared to in Ihhtm1Amc homozygotes (J:154905)
• columnar organization of chondrocytes is partially restored compared to in Ihhtm1Amc homozygotes but is still disorganized compared to in wild-type mice (J:154905)
• columnar organization of chondrocytes is partially restored compared to in Ihhtm1Amc homozygotes but is still disorganized compared to in wild-type mice (J:154905)
• at E18.5, mice fail to exhibit bone deposition in the perichondrium flanking the hypertrophic regions where the bone collar normally forms in the long bones of wild-type mice (J:154905)
• at E18.5, mice fail to exhibit bone deposition in the perichondrium flanking the hypertrophic regions where the bone collar normally forms in the long bones of wild-type mice (J:154905)

cellular
• similar to in Ihhtm1Amc homozygotes, orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• similar to in Ihhtm1Amc homozygotes, orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)




Genotype
MGI:5311114
cn8
Allelic
Composition
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm3(Runx2)Flng mutation (0 available); any Gt(ROSA)26Sor mutation (305 available)
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Tg(Col2a1-cre)3Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the nonhypertrophic chondrocyte zone in the tibia is reduced to a greater extent than in Ihhtm1Amc homozygotes (J:180304)
• the nonhypertrophic chondrocyte zone in the tibia is reduced to a greater extent than in Ihhtm1Amc homozygotes (J:180304)
• hypertrophic chondrocytes exhibit accelerated progression from early stage to late stage hypertrophy compared with control mice (J:180304)
• hypertrophic chondrocytes exhibit accelerated progression from early stage to late stage hypertrophy compared with control mice (J:180304)
• thin bone collar (J:180304)
• thin bone collar (J:180304)
• impaired (J:180304)
• impaired (J:180304)
• impaired (J:180304)
• impaired (J:180304)

cellular
• impaired (J:180304)
• impaired (J:180304)




Genotype
MGI:4414675
cn9
Allelic
Composition
Gli3Xt-J/Gli3Xt-J
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
Tg(Col2a1-cre)3Amc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3Xt-J mutation (3 available); any Gli3 mutation (13 available)
Gt(ROSA)26Sortm2(Gli2*)Flng mutation (0 available); any Gt(ROSA)26Sor mutation (305 available)
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Tg(Col2a1-cre)3Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die at birth (J:154905)
• mice die at birth (J:154905)

skeleton
N
• unlike in Ihhtm1Amc Gli3Xt-J homozygotes the marrow cavity and hypertrophic chondrocyte are normal (J:154905)
• unlike in Ihhtm1Amc Gli3Xt-J homozygotes the marrow cavity and hypertrophic chondrocyte are normal (J:154905)
• the growth region cartilage is longer than in wild-type mice (J:154905)
• the columnar zone contains areas of disorganization unlike in wild-type mice (J:154905)
• however, orthotopic bone collar formation is normal unlike in Ihhtm1Amc homozygotes (J:154905)
• the growth region cartilage is longer than in wild-type mice (J:154905)
• the columnar zone contains areas of disorganization unlike in wild-type mice (J:154905)
• however, orthotopic bone collar formation is normal unlike in Ihhtm1Amc homozygotes (J:154905)

growth/size/body
• while larger than Ihhtm1Amc homozygotes at E18.5, mice are smaller than wild-type mice (J:154905)
• while larger than Ihhtm1Amc homozygotes at E18.5, mice are smaller than wild-type mice (J:154905)

limbs/digits/tail
• while larger than in Ihhtm1Amc homozygotes at E18.5, limbs are shorter than in wild-type mice (J:154905)
• while larger than in Ihhtm1Amc homozygotes at E18.5, limbs are shorter than in wild-type mice (J:154905)




Genotype
MGI:3584477
cx10
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Shhtm1Amc/Shhtm1Amc
Genetic
Background
involves: 129/Sv * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Shhtm1Amc mutation (1 available); any Shh mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• double homozygotes arrest at early somite stages (J:62158)
• double homozygotes arrest at early somite stages (J:62158)




Genotype
MGI:4414677
cx11
Allelic
Composition
Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm2(Gli2*)Flng mutation (0 available); any Gt(ROSA)26Sor mutation (305 available)
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• decreased at E18.5 (J:154905)
• decreased at E18.5 (J:154905)
• the hypertrophic zone lacks vascularization unlike in wild-type mice (J:154905)
• the hypertrophic zone lacks vascularization unlike in wild-type mice (J:154905)
• columnar organization prior to hypertrophy is absent unlike in wild-type mice (J:154905)
• columnar organization prior to hypertrophy is absent unlike in wild-type mice (J:154905)

cellular
• orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)
• orthotopic osteoblast differentiation is impaired as determined by marker expression (J:154905)




Genotype
MGI:4414676
cx12
Allelic
Composition
Gli3Xt-J/Gli3Xt-J
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3Xt-J mutation (3 available); any Gli3 mutation (13 available)
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the marrow cavity does not develop unlike in wild-type mice (J:154905)
• however, hypertrophic chondrocytes are normal (J:154905)
• the marrow cavity does not develop unlike in wild-type mice (J:154905)
• however, hypertrophic chondrocytes are normal (J:154905)
• at E18.5, mice fail to exhibit bone deposition in the perichondrium flanking the hypertrophic regions where the bone collar normally forms in the long bones in wild-type mice (J:154905)
• at E18.5, mice fail to exhibit bone deposition in the perichondrium flanking the hypertrophic regions where the bone collar normally forms in the long bones in wild-type mice (J:154905)




Genotype
MGI:3818879
cx13
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Shhtm1Chg/Shhtm1Chg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (3 available)
Shhtm1Chg mutation (0 available); any Shh mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• yolk sacs are essentially avascular (J:128367)
• yolk sacs are essentially avascular (J:128367)
• embryos is in primitive unturned position at E9.5 (J:128367)
• embryos is in primitive unturned position at E9.5 (J:128367)
• yolk sacs are thin and transparent (J:128367)
• at E9.5 yolk sac mesoderm is a thin lining of inner yolk sac surface whick adheres to mesodermal layer of amnion in some embryos (J:128367)
• yolk sacs are thin and transparent (J:128367)
• at E9.5 yolk sac mesoderm is a thin lining of inner yolk sac surface whick adheres to mesodermal layer of amnion in some embryos (J:128367)

cardiovascular system
• yolk sacs are essentially avascular (J:128367)
• yolk sacs are essentially avascular (J:128367)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory