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Phenotypes Associated with This Genotype
Genotype
MGI:5604133
Allelic
Composition
Hand1tm2Eno/Hand1tm4Abfi
E2f1Tg(Wnt1-cre)2Sor/E2f1+
Genetic
Background
involves: 129S6/SvEvTac * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1Tg(Wnt1-cre)2Sor mutation (2 available); any E2f1 mutation (28 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
Hand1tm4Abfi mutation (0 available); any Hand1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• squamosal bone is slightly hypoplastic
• proximal mandible is slightly hypoplastic
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the middle-ear ossicles are either hypoplastic or absent
• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed
• distances between the lateral nasal prominences and the olfactory pits are extended at E10.5 and E11.5
• maxillary processes are symmetrically reduced in size
• nasal capsule remains unfused at E18.5
• near complete loss of the secondary palate at E18.5
• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant
• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1tm4Abfi heterozygotes
• at E14.5
• 100% penetrance of mid-face clefts, which are obvious at E12.5

digestive/alimentary system
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• near complete loss of the secondary palate at E18.5
• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant

embryo
• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1tm4Abfi heterozygotes

growth/size/body
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• nasal capsule remains unfused at E18.5
• near complete loss of the secondary palate at E18.5
• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant
• at E14.5
• 100% penetrance of mid-face clefts, which are obvious at E12.5

hearing/vestibular/ear
• the middle-ear ossicles are either hypoplastic or absent
• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed

respiratory system
• nasal capsule remains unfused at E18.5
• at E14.5

skeleton
• squamosal bone is slightly hypoplastic
• proximal mandible is slightly hypoplastic
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
• the middle-ear ossicles are either hypoplastic or absent
• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed
• nasal capsule remains unfused at E18.5


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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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory