Analysis Tools|
Allele Symbol Allele Name Allele ID |
Hand1+ wild type MGI:2176458 |
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| Summary |
13 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in 2 of 19 mice at E10.5
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• in 2 of 19 mice at E10.5
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• failure of chorioallantoic attachment in 1 of 19 mice at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mutants are recovered beyond E15.5
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• hypotrabeculation
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• left ventricle compact zone is thin
• however, left ventricle chamber size is proportional to right ventricle size and to controls
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• thin walled myocardium
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• elongated outflow tract; the outflow tracts extend farther into the forming right ventricle
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• poorly formed interventricular septum that is positioned to the right of the endocardial cushions
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• E14.5 hearts exhibit ventricular septal defects both membranous and muscular in nature
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• right ventricle appears smaller
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• hearts show increased cell death within the cardiac ventricles and the outflow tract
• however, cell proliferation is not altered
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• the right ventricle shows signs of edema
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• hypotrabeculation
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• left ventricle compact zone is thin
• however, left ventricle chamber size is proportional to right ventricle size and to controls
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• thin walled myocardium
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | hypoplastic left heart syndrome | DOID:9955 |
OMIM:241550 OMIM:614435 |
J:311466 |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absence of at least a portion of the ala temporalis portion of the alisphenoid
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• the squamosal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
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• proximal mandible appears slightly smaller
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• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
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• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
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• nasal capsule remains unfused at E18.5
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• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
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• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1tm3Abfi mice, with the defect extending into the parietal bones
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• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death
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• proximal mandible appears slightly smaller
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• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
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• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
|
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• nasal capsule remains unfused at E18.5
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• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
|
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
|
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• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1tm3Abfi mice, with the defect extending into the parietal bones
|
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• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1tm2Eno/ Hand1tm4Abfi conditional mice
|
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• nasal capsule remains unfused at E18.5
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• 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
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• nasal capsule remains unfused at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• both sagittal sutures are aberrantly fused
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• skull base defects
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• severely underdeveloped
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• Meckels cartilage (mandibular arch) is truncated at its origin with the malleus
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• frontal bones are hypoplastic leading to a large gap between the frontal bones
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• lamina obturans (the bony portion of the future alisphenoid that abuts the squamosal bone) is missing
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• severely underdeveloped
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• proximal mandible is hypoplastic, with the two halves failing to meet at the midline
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• a portion of the maxilla closest to the frontal bone is missing
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• the jugal bone, the middle bone of the zygomatic arch is hypoplastic
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• the cartilage anlage of the hyoid bone (second arch) is poorly ossified and deformed at the midline
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• nasal capsule remains unfused at E18.5
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• near complete loss of the secondary palate at E18.5
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• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
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• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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• failure of the palatine bones and the palatal processes of the maxilla to fuse
• however, the malleus and incus (mandibular arch) and the stapes appear normal at E17
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• near complete loss of the secondary palate at E18.5
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• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
|
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• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death
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• severely underdeveloped
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• frontal bones are hypoplastic leading to a large gap between the frontal bones
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• proximal mandible is hypoplastic, with the two halves failing to meet at the midline
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• a portion of the maxilla closest to the frontal bone is missing
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• the jugal bone, the middle bone of the zygomatic arch is hypoplastic
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• nasal capsule remains unfused at E18.5
|
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• near complete loss of the secondary palate at E18.5
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• 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
|
|
• failure of the palatine bones and the palatal processes of the maxilla to fuse
• however, the malleus and incus (mandibular arch) and the stapes appear normal at E17
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• nasal capsule remains unfused at E18.5
|
|
• both sagittal sutures are aberrantly fused
|
|
• skull base defects
|
|
• severely underdeveloped
|
|
• Meckels cartilage (mandibular arch) is truncated at its origin with the malleus
|
|
• frontal bones are hypoplastic leading to a large gap between the frontal bones
|
|
• lamina obturans (the bony portion of the future alisphenoid that abuts the squamosal bone) is missing
|
|
• severely underdeveloped
|
|
• proximal mandible is hypoplastic, with the two halves failing to meet at the midline
|
|
• a portion of the maxilla closest to the frontal bone is missing
|
|
• the jugal bone, the middle bone of the zygomatic arch is hypoplastic
|
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• the cartilage anlage of the hyoid bone (second arch) is poorly ossified and deformed at the midline
|
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• nasal capsule remains unfused at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• expected numbers of embryos are obtained at E10.5 and E14.5 but reduced numbers of neonates are seen at P1
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• hearts lack a well-defined apex at P60
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• bifurcated hearts appear slightly hypertrophied at P60
• however, cardiac morphology appears normal at E14.5
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• bifurcated hearts appear slightly hypertrophied at P60
• however, cardiac morphology appears normal at E14.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | hypoplastic left heart syndrome | DOID:9955 |
OMIM:241550 OMIM:614435 |
J:311466 |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• elongated outflow tract
|
|
• right ventricle size appears reduced at E14.5 and at P60
• however, mice exhibit a normal left ventricle chamber
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | hypoplastic left heart syndrome | DOID:9955 |
OMIM:241550 OMIM:614435 |
J:311466 |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reduced size of frontal bones at E18.5, leading to a gap between the left and right frontal bones
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• reduced size of nasal bones at E18.5
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• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal
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• palate formation is improved compared to heterozygous Hand1tm3Abfi Tg(Wnt1-cre)2Sor mice
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• palate formation is improved compared to heterozygous Hand1tm3Abfi Tg(Wnt1-cre)2Sor mice
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• reduced size of frontal bones at E18.5, leading to a gap between the left and right frontal bones
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• reduced size of nasal bones at E18.5
|
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• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal
|
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• palate formation is improved compared to heterozygous Hand1tm3Abfi Tg(Wnt1-cre)2Sor mice
|
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• reduced size of nasal bones at E18.5
|
|
• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal
|
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• reduced size of frontal bones at E18.5, leading to a gap between the left and right frontal bones
|
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• reduced size of nasal bones at E18.5
|
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• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• left-sided
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• at E11.5
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• at E11.5
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• at E11.5
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• at E11.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severely affected mutants do not survive beyond E10.5, however moderately and mildly affected mutants recover from the phenotype, such that they survive to birth
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• the outflow tract is elongated distally and physically displaced from the inflow region
• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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• exhibit variable penetrance of cardiac development abnormalities: those mildly or moderately affected mutants recover from the phenotypes, such that by E12.5-14.5, heart development appears normal, while severely affected mutants die by E10.5
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• severely affected mutants display elevated myocyte density and cellular hypertrophy in the left ventricle
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• as early as E8, exhibit extension of looping
• at E9.5, hearts do not show a defect in the initiation and onset of looping as hearts loop to the right, however looping is abnormal, with a significant overextension of the heart tube
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• as early as E8, exhibit expansion of the primary heart tube
• heart tube is displaced both ventrally away from the body and laterally
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• exhibit defective left ventricle development, impaired left ventricle differentiation and expansion leading to severe necrosis
• in moderately affected mutants, the presumptive left ventricle is reduced in size but undergoes expansion
• in severely affected mutants, ventricular expansion fails and is associated with an almost complete absence of chamber lumen
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mutant embryos are found after E9.5
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• the myocardium is poorly developed at E9.0
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• at E9.0 only a single ventricle is present and the size of the ventricular lumen is decreased compared to Hand2 homozygotes as a result of an increase in the amount of cardiac jelly
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• the myocardium is poorly developed at E9.0
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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 10/06/2026 MGI 6.29 |
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