All Phenotypes Hand1<tm4Abfi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hand1^tm2Eno/Hand1^tm4Abfi E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:5604133
cn2	Hand1^tm4Abfi/Hand1⁺ E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺	involves: C3H * C57BL/6	MGI:5604135

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality ( J:214092 )

craniofacial

temporal bone squamous part hypoplasia ( J:214092 )

• squamosal bone is slightly hypoplastic

mandible hypoplasia ( J:214092 )

• proximal mandible is slightly hypoplastic

decreased maxillary shelf size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

decreased palatine bone horizontal plate size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

absent middle ear ossicles ( J:214092 )

• the middle-ear ossicles are either hypoplastic or absent

middle ear ossicle hypoplasia ( J:214092 )

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

abnormal craniofacial development ( J:214092 )

• distances between the lateral nasal prominences and the olfactory pits are extended at E10.5 and E11.5

abnormal maxillary prominence morphology ( J:214092 )

• maxillary processes are symmetrically reduced in size

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant

abnormal pharyngeal arch morphology ( J:214092 )

• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1^tm4Abfi heterozygotes

absent nasal septum ( J:214092 )

• at E14.5

midline facial cleft ( J:214092 )

• 100% penetrance of mid-face clefts, which are obvious at E12.5

digestive/alimentary system

decreased maxillary shelf size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

decreased palatine bone horizontal plate size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant

embryo

abnormal pharyngeal arch morphology ( J:214092 )

• E9.5 embryos exhibit decreased cell death within the pharyngeal arch mesenchyme compared to single conditional Hand1^tm4Abfi heterozygotes

growth/size/body

decreased maxillary shelf size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

decreased palatine bone horizontal plate size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• mixed penetrance of palatal shelf fusion, although clefting is fully penetrant

absent nasal septum ( J:214092 )

• at E14.5

midline facial cleft ( J:214092 )

• 100% penetrance of mid-face clefts, which are obvious at E12.5

hearing/vestibular/ear

absent middle ear ossicles ( J:214092 )

• the middle-ear ossicles are either hypoplastic or absent

middle ear ossicle hypoplasia ( J:214092 )

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

respiratory system

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

absent nasal septum ( J:214092 )

• at E14.5

skeleton

temporal bone squamous part hypoplasia ( J:214092 )

• squamosal bone is slightly hypoplastic

mandible hypoplasia ( J:214092 )

• proximal mandible is slightly hypoplastic

decreased maxillary shelf size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

decreased palatine bone horizontal plate size ( J:214092 )

• the palatal processes of the palatine and maxilla appear to fuse normally along the midline, although both structures are smaller

absent middle ear ossicles ( J:214092 )

• the middle-ear ossicles are either hypoplastic or absent

middle ear ossicle hypoplasia ( J:214092 )

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

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

Allelic Composition	Hand1^tm4Abfi/Hand1⁺ E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
Genetic Background	involves: C3H * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^{Tg(Wnt1-cre)2Sor} mutation (2 available); any E2f1 mutation (28 available)
Hand1^tm4Abfi mutation (0 available); any Hand1 mutation (15 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality ( J:214092 )

craniofacial

abnormal alisphenoid bone morphology ( J:214092 )

• absence of at least a portion of the ala temporalis portion of the alisphenoid

temporal bone squamous part hypoplasia ( J:214092 )

• the squamosal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

small mandible ( J:214092 )

• proximal mandible appears slightly smaller

premaxilla hypoplasia ( J:214092 )

• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

nasal bone hypoplasia ( J:214092 )

• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal pharyngeal arch morphology ( J:214092 )

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

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

absent nasal septum ( J:214092 )

midline facial cleft ( J:214092 )

• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1^tm3Abfi mice, with the defect extending into the parietal bones

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

embryo

abnormal pharyngeal arch morphology ( J:214092 )

• 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

nasal bone hypoplasia ( J:214092 )

• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

absent nasal septum ( J:214092 )

midline facial cleft ( J:214092 )

• the midline cleft of the maxilla is more severe than in conditional heterozygous Hand1^tm3Abfi mice, with the defect extending into the parietal bones

respiratory system

nasal bone hypoplasia ( J:214092 )

• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

absent nasal septum ( J:214092 )

skeleton

abnormal alisphenoid bone morphology ( J:214092 )

• absence of at least a portion of the ala temporalis portion of the alisphenoid

temporal bone squamous part hypoplasia ( J:214092 )

• the squamosal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

small mandible ( J:214092 )

• proximal mandible appears slightly smaller

premaxilla hypoplasia ( J:214092 )

• the premaxilla bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

nasal bone hypoplasia ( J:214092 )

• the nasal bones are highly hypoplastic but are better formed than in compound heterozygous Hand1^tm2Eno/ Hand1^tm4Abfi conditional mice

abnormal nasal capsule morphology ( J:214092 )

• 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24