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Phenotypes Associated with This Genotype
Genotype
MGI:5604135
Allelic
Composition
Hand1tm4Abfi/Hand1+
E2f1Tg(Wnt1-cre)2Sor/E2f1+
Genetic
Background
involves: 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)
Hand1tm4Abfi mutation (0 available); any Hand1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• absence of at least a portion of the ala temporalis portion of the alisphenoid
• the squamosal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• proximal mandible appears slightly smaller
• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• nasal capsule remains unfused at E18.5
• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1tm3Abfi mice, with the defect extending into the parietal bones

digestive/alimentary system
• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

embryo
• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death

growth/size/body
• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• nasal capsule remains unfused at E18.5
• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1tm3Abfi mice, with the defect extending into the parietal bones

respiratory system
• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• nasal capsule remains unfused at E18.5

skeleton
• absence of at least a portion of the ala temporalis portion of the alisphenoid
• the squamosal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• proximal mandible appears slightly smaller
• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
• 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
03/18/2025
MGI 6.24
The Jackson Laboratory