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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hand1tm2Eno
targeted mutation 2, Eric N Olson
MGI:3514024
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hand1tm2Eno/Hand1tm2Eno either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514050
ht2
Hand1tm1Eno/Hand1tm2Eno either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514052
cn3
Hand1tm1Eno/Hand1tm2Eno
Rr133tm1Eno/Rr133tm1Eno
Tg(Nkx2-5-cre)9Eno/0
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514077
cn4
Hand1tm1Eno/Hand1tm2Eno
Tg(Nkx2-5-cre)9Eno/0
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514074
cn5
Hand1tm1Eno/Hand1tm2Eno
Tg(Myh6-cre)2182Mds/0
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514054
cn6
Hand1tm1Eno/Hand1tm2Eno
Rr133tm1Eno/Rr133+
Tg(Nkx2-5-cre)9Eno/0
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3514076
cn7
Hand1tm2Eno/Hand1tm3Abfi
E2f1Tg(Wnt1-cre)2Sor/E2f1+
involves: 129S6/SvEvTac * C3H * C57BL/6 MGI:5604132
cn8
Hand1tm2Eno/Hand1tm4Abfi
E2f1Tg(Wnt1-cre)2Sor/E2f1+
involves: 129S6/SvEvTac * C3H * C57BL/6 MGI:5604133


Genotype
MGI:3514050
hm1
Allelic
Composition
Hand1tm2Eno/Hand1tm2Eno
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:
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3514052
ht2
Allelic
Composition
Hand1tm1Eno/Hand1tm2Eno
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 (15 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3514077
cn3
Allelic
Composition
Hand1tm1Eno/Hand1tm2Eno
Rr133tm1Eno/Rr133tm1Eno
Tg(Nkx2-5-cre)9Eno/0
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 (15 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
Rr133tm1Eno mutation (0 available); any Rr133 mutation (0 available)
Tg(Nkx2-5-cre)9Eno mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes
• at E9.0 only a single atrium is present
• at E9.0 only a single immature ventricle is present and the lumen of the ventricle is abnormally narrow

muscle
• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes




Genotype
MGI:3514074
cn4
Allelic
Composition
Hand1tm1Eno/Hand1tm2Eno
Tg(Nkx2-5-cre)9Eno/0
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 (15 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
Tg(Nkx2-5-cre)9Eno mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutants die within 2-4 days of birth

cardiovascular system
• heart defects similar to those seen in compound heterozygotes hemizygous for Tg(Myhca-cre)2182Mds are found




Genotype
MGI:3514054
cn5
Allelic
Composition
Hand1tm1Eno/Hand1tm2Eno
Tg(Myh6-cre)2182Mds/0
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 (15 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutants die within 3 days of birth with only 4% surviving to P10 and less than 2% reaching adulthood

cardiovascular system
• immature endocardial cushions are seen in mutant hearts at E13.5
• hyperplastic atrioventicular valves are seen in all mutants and these valves are thickened in neonates
• 90% of mutants have membranous ventricular septal defects and these defects can be detected as early as E10.5
• the muscular ventricular septum is thickened and disorganized
• at E11.5 and E13.5 the left ventricle is reduced in size, however the size is normal at birth

homeostasis/metabolism
• most mutants become cyanotic within 3 days of birth




Genotype
MGI:3514076
cn6
Allelic
Composition
Hand1tm1Eno/Hand1tm2Eno
Rr133tm1Eno/Rr133+
Tg(Nkx2-5-cre)9Eno/0
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 (15 available)
Hand1tm2Eno mutation (0 available); any Hand1 mutation (15 available)
Rr133tm1Eno mutation (0 available); any Rr133 mutation (0 available)
Tg(Nkx2-5-cre)9Eno mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mutant embryos are found after E10.5

cardiovascular system
• at E10.5 the myocardium is poorly trabeculated
• at E10.5 the myocardium is thin

embryo
• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1

muscle
• at E10.5 the myocardium is poorly trabeculated
• at E10.5 the myocardium is thin

growth/size/body
• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1




Genotype
MGI:5604132
cn7
Allelic
Composition
Hand1tm2Eno/Hand1tm3Abfi
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)
Hand1tm3Abfi mutation (1 available); any Hand1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• nasal bone is present but hypoplastic
• 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
• maxillary processes are symmetrically reduced in size
• nasal capsule remains unfused at E18.5
• near complete loss of the secondary palate at E18.5
• palatal shelves fail to fuse
• 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
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
• at E14.5
• 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

digestive/alimentary system
• near complete loss of the secondary palate at E18.5
• palatal shelves fail to fuse
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

embryo
• 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

growth/size/body
• nasal bone is present but hypoplastic
• nasal capsule remains unfused at E18.5
• near complete loss of the secondary palate at E18.5
• palatal shelves fail to fuse
• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse
• at E14.5
• 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

respiratory system
• nasal bone is present but hypoplastic
• nasal capsule remains unfused at E18.5
• at E14.5

skeleton
• nasal bone is present but hypoplastic
• nasal capsule remains unfused at E18.5




Genotype
MGI:5604133
cn8
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





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory