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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitx2tm4(cre)Jfm
targeted mutation 4, James F Martin
MGI:2445429
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Pitx2tm4(cre)Jfm/Pitx2+ Not Specified MGI:6315242
ht2
Pitx2tm1Jfm/Pitx2tm4(cre)Jfm involves: 129S4/SvJaeSor MGI:3587785
cn3
Irf6tm1Bcsl/Irf6tm1Bcsl
Pitx2tm4(cre)Jfm/Pitx2+
involves: 129 MGI:6315241
cn4
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Pitx2tm4(cre)Jfm/Pitx2+
involves: 129S7/SvEvBrd MGI:4818572


Genotype
MGI:6315242
ht1
Allelic
Composition
Pitx2tm4(cre)Jfm/Pitx2+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• mild enamel hypoplasia

growth/size/body
• mild enamel hypoplasia

skeleton
• mild enamel hypoplasia




Genotype
MGI:3587785
ht2
Allelic
Composition
Pitx2tm1Jfm/Pitx2tm4(cre)Jfm
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1Jfm mutation (1 available); any Pitx2 mutation (39 available)
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mutant daughter cells move aberrantly in a dorsal direction out of the oral ectoderm, fail to populate the nasal process, and contribute fewer cells to the oral cavity roof compared to wild-type mice




Genotype
MGI:6315241
cn3
Allelic
Composition
Irf6tm1Bcsl/Irf6tm1Bcsl
Pitx2tm4(cre)Jfm/Pitx2+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Bcsl mutation (0 available); any Irf6 mutation (26 available)
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• total tooth volume is reduced for upper incisors, upper first molars, and lower first molars at P28
• incisors are variably hypoplastic with pitted labial surfaces at P14 but not at birth
• at P28, incisors continue to exhibit disrupted ameloblast polarity, reduced enamel space, and persistence of immature enamel matrix
• by P28, enamel is whiter and more translucent
• molars exhibit increased attrition following eruption such that in some mice by 7 days posteruption (P28), crown wear reaches the dentin in first molars and by P84, molar cusps are worn almost completely flat
• root patterning defects include severely taurodontic mandibular second molars
• mice exhibit defects in molar crown morphology
• crown anomalies are more evident posteruption (P28 and P84)
• at preeruption strages of P7 and P14, molar cusps are shallower in appearance
• 25% of mice show complete loss of cusp patterning
• root patterning defects that include severely taurodontic (enlarged pulp chambers, apical displacement of the pulpal floor, reduced separation or fusion of mesial and distal roots, and reduced constriction at the cementum-enamel junction) mandibular second molars and peg-shaped mandibular first molar roots
• C-shaped roots in mandibular second molars
• single canal in single-rooted mandibular first molars
• 3 mice have missing mandibular third molars unilaterally and 1 is missing a maxillary third molar
• the enamel matrix layer is reduced
• P28 mice exhibit a more radiolucent enamel layer in immature stages of amelogenesis and a more incisally located transition from immature to mature enamel indicating delayed enamel maturation
• aberrant ameloblast organization and function
• the ameloblast layer appears ragged and discontinuous at P7
• molar ameloblasts appear less organized, with increased space between cells at P14
• ameloblasts appear to persist in the secretory stage as compared with the shorter mature ameloblasts in incisors
• mandibular molars exhibit decreased enamel mineral density prior to eruption (P14)
• however, at posteruption stages, the enamel mineral density recovers to levels seen in heterozygous Cre mice but is still less than in wild-type controls
• however, dentin density, percentage dentin volume, and percentage enamel volume are normal
• shearing of enamel rods is seen in P28 mice
• mice exhibit thinner mandibular incisor enamel, particularly at P14
• two mice have supernumerary teeth, one with an extra mandibular incisor and one with a diastema tooth
• epithelial morphology is perturbed in Hertwigs epithelial root sheath, which appears shortened

growth/size/body
• total tooth volume is reduced for upper incisors, upper first molars, and lower first molars at P28
• incisors are variably hypoplastic with pitted labial surfaces at P14 but not at birth
• at P28, incisors continue to exhibit disrupted ameloblast polarity, reduced enamel space, and persistence of immature enamel matrix
• by P28, enamel is whiter and more translucent
• molars exhibit increased attrition following eruption such that in some mice by 7 days posteruption (P28), crown wear reaches the dentin in first molars and by P84, molar cusps are worn almost completely flat
• root patterning defects include severely taurodontic mandibular second molars
• mice exhibit defects in molar crown morphology
• crown anomalies are more evident posteruption (P28 and P84)
• at preeruption strages of P7 and P14, molar cusps are shallower in appearance
• 25% of mice show complete loss of cusp patterning
• root patterning defects that include severely taurodontic (enlarged pulp chambers, apical displacement of the pulpal floor, reduced separation or fusion of mesial and distal roots, and reduced constriction at the cementum-enamel junction) mandibular second molars and peg-shaped mandibular first molar roots
• C-shaped roots in mandibular second molars
• single canal in single-rooted mandibular first molars
• 3 mice have missing mandibular third molars unilaterally and 1 is missing a maxillary third molar
• the enamel matrix layer is reduced
• P28 mice exhibit a more radiolucent enamel layer in immature stages of amelogenesis and a more incisally located transition from immature to mature enamel indicating delayed enamel maturation
• aberrant ameloblast organization and function
• the ameloblast layer appears ragged and discontinuous at P7
• molar ameloblasts appear less organized, with increased space between cells at P14
• ameloblasts appear to persist in the secretory stage as compared with the shorter mature ameloblasts in incisors
• mandibular molars exhibit decreased enamel mineral density prior to eruption (P14)
• however, at posteruption stages, the enamel mineral density recovers to levels seen in heterozygous Cre mice but is still less than in wild-type controls
• however, dentin density, percentage dentin volume, and percentage enamel volume are normal
• shearing of enamel rods is seen in P28 mice
• mice exhibit thinner mandibular incisor enamel, particularly at P14
• two mice have supernumerary teeth, one with an extra mandibular incisor and one with a diastema tooth
• epithelial morphology is perturbed in Hertwigs epithelial root sheath, which appears shortened

skeleton
• total tooth volume is reduced for upper incisors, upper first molars, and lower first molars at P28
• incisors are variably hypoplastic with pitted labial surfaces at P14 but not at birth
• at P28, incisors continue to exhibit disrupted ameloblast polarity, reduced enamel space, and persistence of immature enamel matrix
• by P28, enamel is whiter and more translucent
• molars exhibit increased attrition following eruption such that in some mice by 7 days posteruption (P28), crown wear reaches the dentin in first molars and by P84, molar cusps are worn almost completely flat
• root patterning defects include severely taurodontic mandibular second molars
• mice exhibit defects in molar crown morphology
• crown anomalies are more evident posteruption (P28 and P84)
• at preeruption strages of P7 and P14, molar cusps are shallower in appearance
• 25% of mice show complete loss of cusp patterning
• root patterning defects that include severely taurodontic (enlarged pulp chambers, apical displacement of the pulpal floor, reduced separation or fusion of mesial and distal roots, and reduced constriction at the cementum-enamel junction) mandibular second molars and peg-shaped mandibular first molar roots
• C-shaped roots in mandibular second molars
• single canal in single-rooted mandibular first molars
• 3 mice have missing mandibular third molars unilaterally and 1 is missing a maxillary third molar
• the enamel matrix layer is reduced
• P28 mice exhibit a more radiolucent enamel layer in immature stages of amelogenesis and a more incisally located transition from immature to mature enamel indicating delayed enamel maturation
• aberrant ameloblast organization and function
• the ameloblast layer appears ragged and discontinuous at P7
• molar ameloblasts appear less organized, with increased space between cells at P14
• ameloblasts appear to persist in the secretory stage as compared with the shorter mature ameloblasts in incisors
• mandibular molars exhibit decreased enamel mineral density prior to eruption (P14)
• however, at posteruption stages, the enamel mineral density recovers to levels seen in heterozygous Cre mice but is still less than in wild-type controls
• however, dentin density, percentage dentin volume, and percentage enamel volume are normal
• shearing of enamel rods is seen in P28 mice
• mice exhibit thinner mandibular incisor enamel, particularly at P14
• two mice have supernumerary teeth, one with an extra mandibular incisor and one with a diastema tooth
• epithelial morphology is perturbed in Hertwigs epithelial root sheath, which appears shortened

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cleft lip DOID:9296 J:275989




Genotype
MGI:4818572
cn4
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Pitx2tm4(cre)Jfm/Pitx2+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm4.1Rjo mutation (1 available); any Lmx1b mutation (16 available)
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• expression analysis indicates the absence of sphincter and dilator muscles in the iris
• angle closure
• not detectable
• decrease in the amount of corneal endothelial tissue
• at P13
• about 20% smaller relative to overall eye size
• in about 25% of mice at 3 weeks of age

muscle
• expression analysis indicates the absence of sphincter and dilator muscles in the iris





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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory