Phenotypes associated with this allele

• Allele Symbol: Hand2^tm2Eno
• Allele Name: targeted mutation 2, Eric N Olson
• Allele ID: MGI:3838372
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hand2^tm2Eno/Hand2^tm2Eno	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3838383
cx2	Rr133^tm1Eno/Rr133^+ Hand2^tm2Eno/Hand2^tm2Eno	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3838384

Genotype
MGI:3838383

hm1

• Allelic Composition: Hand2^tm2Eno/Hand2^tm2Eno
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

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

growth/size/body

abnormal facial morphology ( J:146638 )

• at E11.5, mice have abnormal faces

cardiovascular system

abnormal cardiac outflow tract development ( J:146638 )

• slightly smaller than normal at E9.5

abnormal atrioventricular cushion morphology ( J:146638 )

• endocardial cushions are slightly disorganized at E10.5 and disorganized at E11.5 compared to in wild-type mice

increased atrioventricular cushion size ( J:146638 )

• at E11.5

abnormal interventricular septum morphology ( J:146638 )

• at E11.5, the interventricular septum begins to form but is delayed and myocytes fail to thicken unlike in wild-type mice

• E12.5, the interventricular septum is hypoplastic compared to in wild-type mice

abnormal heart left ventricle morphology ( J:146638 )

• at E11.5, left ventricles are thin with few trabeculations compared to in wild-type mice

dilated heart left ventricle ( J:146638 )

abnormal heart right ventricle morphology ( J:146638 )

• at E11.5, right ventricles have reduced trabeculation compared to in wild-type mice

• at E12.5, the right ventricle is underdeveloped with less trabeculation compared to in wild-type mice

decreased heart right ventricle size ( J:146638 )

• slightly at E9.5

limbs/digits/tail

abnormal limb bud morphology ( J:146638 )

• anterior margins of the forelimb buds are shifted posteriorly compared to in wild-type mice

abnormal apical ectodermal ridge morphology ( J:146638 )

• at E10.5, the apical ectodermal ridge (AER) of the forelimb is shorter along the anterior posterior axis compared to in wild-type mice

• at E11.5, the AER of both the fore- and hind-limb buds is shorter than in wild-type mice

craniofacial

abnormal jaw morphology ( J:146638 )

• at E11.5

abnormal first pharyngeal arch morphology ( J:146638 )

• at E11.5, the left and right mandibular components of the first branchial arch fail to fuse unlike in wild-type mice

• however, branchial arch development until E10.5 is normal

abnormal facial morphology ( J:146638 )

• at E11.5, mice have abnormal faces

embryo

abnormal first pharyngeal arch morphology ( J:146638 )

• at E11.5, the left and right mandibular components of the first branchial arch fail to fuse unlike in wild-type mice

• however, branchial arch development until E10.5 is normal

abnormal limb bud morphology ( J:146638 )

• anterior margins of the forelimb buds are shifted posteriorly compared to in wild-type mice

abnormal apical ectodermal ridge morphology ( J:146638 )

• at E10.5, the apical ectodermal ridge (AER) of the forelimb is shorter along the anterior posterior axis compared to in wild-type mice

• at E11.5, the AER of both the fore- and hind-limb buds is shorter than in wild-type mice

skeleton

abnormal jaw morphology ( J:146638 )

• at E11.5

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146638 )

• mutation results in lethality between E10.5 and E12.5 due to cardiovascular defects

Genotype
MGI:3838384

cx2

• Allelic Composition: Rr133^tm1Eno/Rr133⁺; Hand2^tm2Eno/Hand2^tm2Eno
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:146638 )

• mice die at P1 due to a failure to suckle

craniofacial

abnormal mandibular angle morphology ( J:146638 )

• the angle between the right and left mandibular bones is wider than in wild-type mice

mandible hypoplasia ( J:146638 )

• mandibles are hypoplastic and foreshortened compared to in wild-type mice

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed unlike in wild-type mice

cleft secondary palate ( J:146638 )

• secondary palate was not formed

failure of palatal shelf elevation ( J:146638 )

• the palatal processes do not elevate

hearing/vestibular/ear

decreased tympanic ring size ( J:146638 )

• shortened and deformed

behavior/neurological

absent suckling reflex ( J:146638 )

• mice fail to suckle at birth

digestive/alimentary system

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed unlike in wild-type mice

cleft secondary palate ( J:146638 )

• secondary palate was not formed

failure of palatal shelf elevation ( J:146638 )

• the palatal processes do not elevate

skeleton

abnormal mandibular angle morphology ( J:146638 )

• the angle between the right and left mandibular bones is wider than in wild-type mice

mandible hypoplasia ( J:146638 )

• mandibles are hypoplastic and foreshortened compared to in wild-type mice

growth/size/body

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed unlike in wild-type mice

cleft secondary palate ( J:146638 )

• secondary palate was not formed

failure of palatal shelf elevation ( J:146638 )

• the palatal processes do not elevate