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

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