Phenotypes associated with this allele
Allelic
Composition |
Hand1tm2Eno/Hand1tm2Eno
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Genetic
Background |
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
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Allelic
Composition |
Hand1tm1Eno/Hand1tm2Eno
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Genetic
Background |
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm1Eno mutation
(1 available);
any
Hand1 mutation
(14 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm1Eno mutation
(1 available);
any
Hand1 mutation
(14 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
Rr133tm1Eno mutation
(0 available);
any
Rr133 mutation
(0 available)
Tg(Nkx2-5-cre)9Eno mutation
(0 available)
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mortality/aging
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• no mutant embryos are found after E9.0
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cardiovascular system
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• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes
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• at E9.0 only a single atrium is present
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• at E9.0 only a single immature ventricle is present and the lumen of the ventricle is abnormally narrow
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muscle
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• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm1Eno mutation
(1 available);
any
Hand1 mutation
(14 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
Tg(Nkx2-5-cre)9Eno mutation
(0 available)
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mortality/aging
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• most mutants die within 2-4 days of birth
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cardiovascular system
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• heart defects similar to those seen in compound heterozygotes hemizygous for Tg(Myhca-cre)2182Mds are found
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm1Eno mutation
(1 available);
any
Hand1 mutation
(14 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
Tg(Myh6-cre)2182Mds mutation
(3 available)
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mortality/aging
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• most mutants die within 3 days of birth with only 4% surviving to P10 and less than 2% reaching adulthood
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cardiovascular system
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• immature endocardial cushions are seen in mutant hearts at E13.5
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• hyperplastic atrioventicular valves are seen in all mutants and these valves are thickened in neonates
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• 90% of mutants have membranous ventricular septal defects and these defects can be detected as early as E10.5
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• the muscular ventricular septum is thickened and disorganized
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• at E11.5 and E13.5 the left ventricle is reduced in size, however the size is normal at birth
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homeostasis/metabolism
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm1Eno mutation
(1 available);
any
Hand1 mutation
(14 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
Rr133tm1Eno mutation
(0 available);
any
Rr133 mutation
(0 available)
Tg(Nkx2-5-cre)9Eno mutation
(0 available)
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mortality/aging
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• no mutant embryos are found after E10.5
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cardiovascular system
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• at E10.5 the myocardium is poorly trabeculated
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• at E10.5 the myocardium is thin
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embryo
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• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1
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muscle
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• at E10.5 the myocardium is poorly trabeculated
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• at E10.5 the myocardium is thin
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growth/size/body
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• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1
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mortality/aging
craniofacial
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• nasal bone is present but hypoplastic
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• distances between the lateral nasal prominences and the olfactory pits are extended at E10.5 and E11.5
• however craniofacial defects are less severe than in single conditional Hand1tm3Abfi heterozygotes; the squamosal, jugal, and tympanic ringbones appear normal, as does the premaxilla and the mandible, there is improvement in the pterygoid bones, the size of the lamina obturans and sqamosal bones are improved, and sagittal sutures appear normal
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• maxillary processes are symmetrically reduced in size
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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 fail to fuse
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• E9.5 embryos exhibit increased cell death within the pharyngeal arch mesenchyme compared to controls, however level of cell death is decreased compared to the single conditional Hand1tm3Abfi heterozygotes
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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• 100% penetrance of mid-face clefts, which are obvious at E12.5
• the trabecular basal pate is better developed, although there is still a cleft between the palatal processes of the palatine and maxilla bones and between the two halves of the premaxilla
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digestive/alimentary system
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• near complete loss of the secondary palate at E18.5
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• palatal shelves fail to fuse
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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embryo
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• E9.5 embryos exhibit increased cell death within the pharyngeal arch mesenchyme compared to controls, however level of cell death is decreased compared to the single conditional Hand1tm3Abfi heterozygotes
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growth/size/body
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• nasal bone is present but 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 fail to fuse
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• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
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• 100% penetrance of mid-face clefts, which are obvious at E12.5
• the trabecular basal pate is better developed, although there is still a cleft between the palatal processes of the palatine and maxilla bones and between the two halves of the premaxilla
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respiratory system
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• nasal bone is present but hypoplastic
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• nasal capsule remains unfused at E18.5
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skeleton
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• nasal bone is present but hypoplastic
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• nasal capsule remains unfused at E18.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1Tg(Wnt1-cre)2Sor mutation
(2 available);
any
E2f1 mutation
(25 available)
Hand1tm2Eno mutation
(0 available);
any
Hand1 mutation
(14 available)
Hand1tm4Abfi mutation
(0 available);
any
Hand1 mutation
(14 available)
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mortality/aging
craniofacial
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• squamosal bone is slightly hypoplastic
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• proximal mandible is slightly hypoplastic
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
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• the middle-ear ossicles are either hypoplastic or absent
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• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed
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• distances between the lateral nasal prominences and the olfactory pits are extended at E10.5 and E11.5
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• maxillary processes are symmetrically reduced in size
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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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• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant
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• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1tm4Abfi heterozygotes
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• 100% penetrance of mid-face clefts, which are obvious at E12.5
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digestive/alimentary system
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
|
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
|
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• near complete loss of the secondary palate at E18.5
|
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• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant
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embryo
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• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1tm4Abfi heterozygotes
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growth/size/body
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
|
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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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• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant
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• 100% penetrance of mid-face clefts, which are obvious at E12.5
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hearing/vestibular/ear
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• the middle-ear ossicles are either hypoplastic or absent
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• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed
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respiratory system
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• nasal capsule remains unfused at E18.5
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skeleton
|
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• squamosal bone is slightly hypoplastic
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• proximal mandible is slightly hypoplastic
|
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
|
|
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• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller
|
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• the middle-ear ossicles are either hypoplastic or absent
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• the middle-ear ossicles are either hypoplastic or absent, although portions of the alisphenoid appear better developed
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• nasal capsule remains unfused at E18.5
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Analysis Tools