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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tmem107tm1Lex
targeted mutation 1, Lexicon Pharmaceuticals
MGI:5007367
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tmem107tm1Lex/Tmem107tm1Lex B6N.129S5(Cg)-Tmem107tm1Lex/Mmucd MGI:5433097
ht2
Tmem107schlei/Tmem107tm1Lex involves: 129S5/SvEvBrd * C3HeB/FeJ * C57BL/6J * C57BL/6N MGI:5433098


Genotype
MGI:5433097
hm1
Allelic
Composition
Tmem107tm1Lex/Tmem107tm1Lex
Genetic
Background
B6N.129S5(Cg)-Tmem107tm1Lex/Mmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmem107tm1Lex mutation (3 available); any Tmem107 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• several embryos show a rudimentary vomeronasal organ
• mice exhibit defective neuronal patterning at the hind limb level of the neural tube
• at E10.5
• 30% of embryos show massive exencephaly with distinct abnormalities in head shape at E12.5
• 67% of embryos show optic nerve hypoplasia

limbs/digits/tail

embryo
• mice exhibit defective neuronal patterning at the hind limb level of the neural tube
• at E10.5

craniofacial
• multiple gross morphological defects in craniofacial regions evident at E12.5
• altered rostrum morphology at E12.5
• abnormal basisphenoid bone morphology with delayed development of chondrogenesis as well as delayed ossification at E15.5
• delayed ossification of basisphenoid bone in all embryos at E15.5
• Meckels cartilage is shorter at E16.5
• shape defects in nasal septum cartilage with enlarged nasal septum or defects in vomeronasal cartilage formation
• cartilages surrounding the vomeronasal organ show altered shape and are fused in the midline or missing
• delayed chondrogenesis in basisphenoid cartilage at E15.5
• smaller frontal bone at E15.5
• smaller parietal bones at E15.5
• mandibular bone ossification center is significantly shorter at E15.5
• mandibular bones are deformed at E16.5
• mandible is shortened in all embryos at E16.5
• maxilla is abnormal or reduced in size in all embryos at E16.5
• palatal process of the maxillary bone is reduced at E16.5
• no premaxillary ossification center is visible at E15.5
• premaxilla is abnormal or reduced in size in all embryos at E16.5, with premaxilla fusing across the ventral midline in 3 of 6 embryos
• smaller maxillary bone at E15.5
• palatine bones are reduced at E16.5
• 5 of 6 embryos show a reduced zygomatic bone at E16.5
• expansion of the facial midline at E12.5, indicating disruption of Shh signaling
• 4 of 6 embryos show total absence of the nasal bone at E16.5
• 2 of 6 embryos show a smaller nasal bone at E16.5
• increased palatal mesenchymal proliferation at E13.5 and E14.5 leading to early overgrowth of palatal shelves followed by defects in their horizontalization
• most mice develop only indistinct medial outgrowth of palatal processes at E12.5, indicating delayed growth of palatal shelves
• anterior palatal shelves are misshapen or enlarged (thicker) and improperly oriented under the tongue at E14.5 and E15.5
• expression of epithelial stemness marker SOX2 is altered in the palatal shelves; SOX2 is NOT downregulated in the lingual side and the tip of the shelves during horizontalization
• differences in mesenchymal SOX9 expression indicate enhanced neural crest migration
• onset of ossification is delayed in the palatal shelves at E15.5
• however, palatal shelves are ossified by E16.5
• delay in palatal shelves growth at E12.5 and E13.5
• secondary palate remains open during normal fusion stages between E14.5 and E15.5 as well as at E16
• cleft lip and palate at E13.5-E15.5
• 14% of embryos show extensive cleft lip
• in most cases (4 of 5), cleft lip is one-sided and extends into the nasal cavity
• increased expression of Shh and its downstream target Gli1 in the palatal ridges at E14.5
• cleft lip and palate at E13.5-E15.5
• clefting of the secondary palate due to altered growth of palatal shelves
• anterior palatal shelves are improperly oriented under the tongue at E14.5
• at E15.5, palatal shelves were still vertically oriented in one case or they grew horizontally but were not touching each other in the anterior part due to bilateral asymmetry
• tongue is smaller and misshapen at E12.5 and E13.5
• tongue is located above palatal shelves during palatal closure
• tongue is smaller at E13.5
• shape defects in nasal septum cartilage with enlarged nasal septum at E15.5
• altered shape of vomeronasal cartilage at E15.5
• several embryos show a rudimentary vomeronasal organ
• enlarged nasal septum at E15.5
• nasal septum is slightly wider at E15.5
• snout is wider and shorter at E15.5
• broader snout at E15.5
• shorter snout at E14.5 and E15.5
• 30% of embryos show massive exencephaly with distinct abnormalities in head shape at E12.5

vision/eye
• 67% of embryos show optic nerve hypoplasia
• in some cases, eye development is arrested with only a small pigmented layer or lens pit that appears to result from increased apoptosis and downregulation of the SOX2 progenitor marker at E13.5
• 67% of embryos show reduced or absent eyes at E12.5-E15.5
• 67% of embryos show reduced or absent eyes at E12.5-E15.5

growth/size/body
• expansion of the facial midline at E12.5, indicating disruption of Shh signaling
• palatal process of the maxillary bone is reduced at E16.5
• 4 of 6 embryos show total absence of the nasal bone at E16.5
• 2 of 6 embryos show a smaller nasal bone at E16.5
• increased palatal mesenchymal proliferation at E13.5 and E14.5 leading to early overgrowth of palatal shelves followed by defects in their horizontalization
• most mice develop only indistinct medial outgrowth of palatal processes at E12.5, indicating delayed growth of palatal shelves
• anterior palatal shelves are misshapen or enlarged (thicker) and improperly oriented under the tongue at E14.5 and E15.5
• expression of epithelial stemness marker SOX2 is altered in the palatal shelves; SOX2 is NOT downregulated in the lingual side and the tip of the shelves during horizontalization
• differences in mesenchymal SOX9 expression indicate enhanced neural crest migration
• onset of ossification is delayed in the palatal shelves at E15.5
• however, palatal shelves are ossified by E16.5
• delay in palatal shelves growth at E12.5 and E13.5
• secondary palate remains open during normal fusion stages between E14.5 and E15.5 as well as at E16
• cleft lip and palate at E13.5-E15.5
• 14% of embryos show extensive cleft lip
• in most cases (4 of 5), cleft lip is one-sided and extends into the nasal cavity
• increased expression of Shh and its downstream target Gli1 in the palatal ridges at E14.5
• cleft lip and palate at E13.5-E15.5
• clefting of the secondary palate due to altered growth of palatal shelves
• anterior palatal shelves are improperly oriented under the tongue at E14.5
• at E15.5, palatal shelves were still vertically oriented in one case or they grew horizontally but were not touching each other in the anterior part due to bilateral asymmetry
• tongue is smaller and misshapen at E12.5 and E13.5
• tongue is located above palatal shelves during palatal closure
• tongue is smaller at E13.5
• shape defects in nasal septum cartilage with enlarged nasal septum at E15.5
• altered shape of vomeronasal cartilage at E15.5
• several embryos show a rudimentary vomeronasal organ
• enlarged nasal septum at E15.5
• nasal septum is slightly wider at E15.5
• snout is wider and shorter at E15.5
• broader snout at E15.5
• shorter snout at E14.5 and E15.5
• 30% of embryos show massive exencephaly with distinct abnormalities in head shape at E12.5

skeleton
• altered rostrum morphology at E12.5
• abnormal basisphenoid bone morphology with delayed development of chondrogenesis as well as delayed ossification at E15.5
• delayed ossification of basisphenoid bone in all embryos at E15.5
• Meckels cartilage is shorter at E16.5
• shape defects in nasal septum cartilage with enlarged nasal septum or defects in vomeronasal cartilage formation
• cartilages surrounding the vomeronasal organ show altered shape and are fused in the midline or missing
• delayed chondrogenesis in basisphenoid cartilage at E15.5
• smaller frontal bone at E15.5
• smaller parietal bones at E15.5
• mandibular bone ossification center is significantly shorter at E15.5
• mandibular bones are deformed at E16.5
• mandible is shortened in all embryos at E16.5
• maxilla is abnormal or reduced in size in all embryos at E16.5
• palatal process of the maxillary bone is reduced at E16.5
• no premaxillary ossification center is visible at E15.5
• premaxilla is abnormal or reduced in size in all embryos at E16.5, with premaxilla fusing across the ventral midline in 3 of 6 embryos
• smaller maxillary bone at E15.5
• 4 of 6 embryos show total absence of the nasal bone at E16.5
• 2 of 6 embryos show a smaller nasal bone at E16.5
• palatine bones are reduced at E16.5
• 5 of 6 embryos show a reduced zygomatic bone at E16.5
• shape defects in nasal septum cartilage with enlarged nasal septum at E15.5
• altered shape of vomeronasal cartilage at E15.5
• ossification of the frontal, parietal, and interparietal bones is reduced at E16.5; one of 6 embryos showed no signs of interparietal ossification
• onset of ossification is delayed in several facial membranous bones; at E15.5, the ossification center of the mandibular bone is significantly shorter while the premaxillary ossification center is not detectable

respiratory system
• 4 of 6 embryos show total absence of the nasal bone at E16.5
• 2 of 6 embryos show a smaller nasal bone at E16.5
• shape defects in nasal septum cartilage with enlarged nasal septum at E15.5
• altered shape of vomeronasal cartilage at E15.5
• several embryos show a rudimentary vomeronasal organ
• enlarged nasal septum at E15.5
• nasal septum is slightly wider at E15.5

digestive/alimentary system
• palatal process of the maxillary bone is reduced at E16.5
• increased palatal mesenchymal proliferation at E13.5 and E14.5 leading to early overgrowth of palatal shelves followed by defects in their horizontalization
• most mice develop only indistinct medial outgrowth of palatal processes at E12.5, indicating delayed growth of palatal shelves
• anterior palatal shelves are misshapen or enlarged (thicker) and improperly oriented under the tongue at E14.5 and E15.5
• expression of epithelial stemness marker SOX2 is altered in the palatal shelves; SOX2 is NOT downregulated in the lingual side and the tip of the shelves during horizontalization
• differences in mesenchymal SOX9 expression indicate enhanced neural crest migration
• onset of ossification is delayed in the palatal shelves at E15.5
• however, palatal shelves are ossified by E16.5
• delay in palatal shelves growth at E12.5 and E13.5
• secondary palate remains open during normal fusion stages between E14.5 and E15.5 as well as at E16
• increased expression of Shh and its downstream target Gli1 in the palatal ridges at E14.5
• cleft lip and palate at E13.5-E15.5
• clefting of the secondary palate due to altered growth of palatal shelves
• anterior palatal shelves are improperly oriented under the tongue at E14.5
• at E15.5, palatal shelves were still vertically oriented in one case or they grew horizontally but were not touching each other in the anterior part due to bilateral asymmetry
• tongue is smaller and misshapen at E12.5 and E13.5
• tongue is located above palatal shelves during palatal closure
• tongue is smaller at E13.5

cellular
• altered length and morphology of primary cilia in the anterior, middle, and posterior areas of palatal shelf surfaces at E12.5, with numerous abnormal elongated, curly or very short cilia
• high variability in cilia length, esp. in the anterior or middle areas of the palate; occasionally, enlargements or bulges are found on the most distal cilia tip
• primary cilia labeled by alpha-acetylated tubulin appear to be elongated and have altered shape in both ventral and dorsal parts of the anterior palatal shelves
• altered primary cilia morphology is accompanied by upregulated expression of IFT88 and Shh signaling




Genotype
MGI:5433098
ht2
Allelic
Composition
Tmem107schlei/Tmem107tm1Lex
Genetic
Background
involves: 129S5/SvEvBrd * C3HeB/FeJ * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmem107schlei mutation (0 available); any Tmem107 mutation (20 available)
Tmem107tm1Lex mutation (3 available); any Tmem107 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E10.5

limbs/digits/tail

embryo
• at E10.5





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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory