Phenotypes associated with this allele

• Allele Symbol: Rr133^tm1Eno
• Allele Name: targeted mutation 1, Eric N Olson
• Allele ID: MGI:2653307
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rr133^tm1Eno/Rr133^tm1Eno	involves: 129S6/SvEvTac	MGI:3838385
hm2	Rr133^tm1Eno/Rr133^tm1Eno	involves: 129S6/SvEvTac * C57BL/6	MGI:2653308
cn3	Hand1^tm1Eno/Hand1^tm2Eno Rr133^tm1Eno/Rr133^+ Tg(Nkx2-5-cre)9Eno/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514076
cn4	Hand1^tm1Eno/Hand1^tm2Eno Rr133^tm1Eno/Rr133^tm1Eno Tg(Nkx2-5-cre)9Eno/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514077
cx5	Rr133^tm1Eno/Rr133^+ Hand2^tm2Eno/Hand2^tm2Eno	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3838384
cx6	Hand1^tm1Eno/Hand1^+ Rr133^tm1Eno/Rr133^tm1Eno	Not Specified	MGI:3514081

Genotype
MGI:3838385

hm1

• Allelic Composition: Rr133^tm1Eno/Rr133^tm1Eno
• Genetic Background: involves: 129S6/SvEvTac

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

craniofacial

abnormal Meckel's cartilage morphology ( J:146638 )

mandible hypoplasia ( J:146638 )

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed

cleft secondary palate ( J:146638 )

• the secondary palate is 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

skeleton

abnormal Meckel's cartilage morphology ( J:146638 )

mandible hypoplasia ( J:146638 )

digestive/alimentary system

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed

cleft secondary palate ( J:146638 )

• the secondary palate is not formed

failure of palatal shelf elevation ( J:146638 )

• the palatal processes do not elevate

growth/size/body

abnormal secondary palate development ( J:146638 )

• the secondary palate is not formed

cleft secondary palate ( J:146638 )

• the secondary palate is not formed

failure of palatal shelf elevation ( J:146638 )

• the palatal processes do not elevate

Genotype
MGI:2653308

hm2

• Allelic Composition: Rr133^tm1Eno/Rr133^tm1Eno
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:81764 )

• all homozygotes die within 24 hrs of birth from failure to suckle

craniofacial

abnormal craniofacial bone morphology ( J:81764 )

• newborn homozygotes display lethal craniofacial abnormalities

abnormal Meckel's cartilage morphology ( J:81764 )

• as early as E14.5, Meckel's cartilage is noticeably truncated

• at P1, the distal symphysis of Meckel's cartilage is present but smaller than normal

• at P1, Meckel's cartilage is disrupted at the proximal end closer to the junction to the malleus

• however, all inner ear structures and middle ear ossicles are present

short Meckel's cartilage ( J:81764 )

• as early as E14.5, Meckel's cartilage is noticeably truncated

abnormal presphenoid bone morphology ( J:81764 )

• at P1, the palatine processes are not formed causing the presphenoid to be exposed in ventral view

abnormal pterygoid bone morphology ( J:81764 )

• at P1, the pterygoid bones are deformed causing the relative angle to the basisphenoid bone to be abnormal

abnormal hyoid bone lesser horn morphology ( J:81764 )

• at E14.5, the lesser horns of the hyoid are laterally projected

abnormal mandible morphology ( J:81764 )

• at P1, mutant mandibular bones are displaced laterally and appear deformed relative to those of wild-type mice

abnormal mandibular angle morphology ( J:81764 )

• at P1, the angle between the right and left mandibular bones is wider than normal

• at P1, the angular process is markedly reduced, and an ectopic process is noted extending from the ventral surfaces of the mandible

small mandible ( J:81764 )

• at P1

mandible hypoplasia ( J:81764 )

• at P1, mutant mandibular bones are hypoplastic relative to those of wild-type mice

short mandible ( J:81764 )

• at P1

absent maxillary shelf ( J:81764 )

• at P1, the palatine processes are nearly absent; only small remnants are observed by close examination

abnormal middle ear ossicle morphology ( J:81764 )

• at P1, middle ear ossicles are only mildly affected

gonial bone hypoplasia ( J:81764 )

• at P1, the gonial bone is mildly hypoplastic

abnormal malleus manubrium morphology ( J:81764 )

• at P1, the projection of the malleal manubrium is abnormal

failure of palatal shelf elevation ( J:81764 )

• newborn homozygotes display failure of palatal shelf elevation and fusion (cleft palate)

abnormal palatal shelf fusion at midline ( J:81764 )

• at P1, the secondary palate of the mutants fails to fuse along the midline of the oral shelf

abnormal tongue muscle morphology ( J:81764 )

• at P1, mutant tongue muscle fibers are sparse and less organized, and appear to be randomly oriented relative to those of wild-type mice

skeleton

abnormal craniofacial bone morphology ( J:81764 )

• newborn homozygotes display lethal craniofacial abnormalities

abnormal Meckel's cartilage morphology ( J:81764 )

• as early as E14.5, Meckel's cartilage is noticeably truncated

• at P1, the distal symphysis of Meckel's cartilage is present but smaller than normal

• at P1, Meckel's cartilage is disrupted at the proximal end closer to the junction to the malleus

• however, all inner ear structures and middle ear ossicles are present

short Meckel's cartilage ( J:81764 )

• as early as E14.5, Meckel's cartilage is noticeably truncated

abnormal presphenoid bone morphology ( J:81764 )

• at P1, the palatine processes are not formed causing the presphenoid to be exposed in ventral view

abnormal pterygoid bone morphology ( J:81764 )

• at P1, the pterygoid bones are deformed causing the relative angle to the basisphenoid bone to be abnormal

abnormal hyoid bone lesser horn morphology ( J:81764 )

• at E14.5, the lesser horns of the hyoid are laterally projected

abnormal mandible morphology ( J:81764 )

• at P1, mutant mandibular bones are displaced laterally and appear deformed relative to those of wild-type mice

abnormal mandibular angle morphology ( J:81764 )

• at P1, the angle between the right and left mandibular bones is wider than normal

• at P1, the angular process is markedly reduced, and an ectopic process is noted extending from the ventral surfaces of the mandible

small mandible ( J:81764 )

• at P1

mandible hypoplasia ( J:81764 )

• at P1, mutant mandibular bones are hypoplastic relative to those of wild-type mice

short mandible ( J:81764 )

• at P1

absent maxillary shelf ( J:81764 )

• at P1, the palatine processes are nearly absent; only small remnants are observed by close examination

abnormal middle ear ossicle morphology ( J:81764 )

• at P1, middle ear ossicles are only mildly affected

gonial bone hypoplasia ( J:81764 )

• at P1, the gonial bone is mildly hypoplastic

abnormal malleus manubrium morphology ( J:81764 )

• at P1, the projection of the malleal manubrium is abnormal

behavior/neurological

abnormal suckling behavior ( J:81764 )

• newborn homozygotes fail to suckle and do not contain milk in their stomachs

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:81764 )

• at P1, middle ear ossicles are only mildly affected

gonial bone hypoplasia ( J:81764 )

• at P1, the gonial bone is mildly hypoplastic

abnormal malleus manubrium morphology ( J:81764 )

• at P1, the projection of the malleal manubrium is abnormal

abnormal tympanic ring morphology ( J:81764 )

• at P1, the tympanic rings are thickened and malformed

decreased tympanic ring size ( J:81764 )

• at P1, the tympanic rings are shorter than normal

muscle

abnormal tongue muscle morphology ( J:81764 )

• at P1, mutant tongue muscle fibers are sparse and less organized, and appear to be randomly oriented relative to those of wild-type mice

digestive/alimentary system

absent maxillary shelf ( J:81764 )

• at P1, the palatine processes are nearly absent; only small remnants are observed by close examination

failure of palatal shelf elevation ( J:81764 )

• newborn homozygotes display failure of palatal shelf elevation and fusion (cleft palate)

abnormal palatal shelf fusion at midline ( J:81764 )

• at P1, the secondary palate of the mutants fails to fuse along the midline of the oral shelf

abnormal tongue muscle morphology ( J:81764 )

• at P1, mutant tongue muscle fibers are sparse and less organized, and appear to be randomly oriented relative to those of wild-type mice

cardiovascular system

cardiovascular system phenotype ( J:81764 )

N • homozygotes do not display any gross abnormalities in the cardiac outflow tract or great vessels

growth/size/body

absent maxillary shelf ( J:81764 )

• at P1, the palatine processes are nearly absent; only small remnants are observed by close examination

failure of palatal shelf elevation ( J:81764 )

• newborn homozygotes display failure of palatal shelf elevation and fusion (cleft palate)

abnormal palatal shelf fusion at midline ( J:81764 )

• at P1, the secondary palate of the mutants fails to fuse along the midline of the oral shelf

abnormal tongue muscle morphology ( J:81764 )

• at P1, mutant tongue muscle fibers are sparse and less organized, and appear to be randomly oriented relative to those of wild-type mice

Genotype
MGI:3514076

cn3

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Rr133^tm1Eno/Rr133⁺; Tg(Nkx2-5-cre)9Eno/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:94514 )

• no mutant embryos are found after E10.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:94514 )

• at E10.5 the myocardium is poorly trabeculated

thin myocardium ( J:94514 )

• at E10.5 the myocardium is thin

embryo

embryonic growth retardation ( J:94514 )

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

muscle

abnormal myocardial trabeculae morphology ( J:94514 )

• at E10.5 the myocardium is poorly trabeculated

thin myocardium ( J:94514 )

• at E10.5 the myocardium is thin

growth/size/body

embryonic growth retardation ( J:94514 )

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

Genotype
MGI:3514077

cn4

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Rr133^tm1Eno/Rr133^tm1Eno; Tg(Nkx2-5-cre)9Eno/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:94514 )

• no mutant embryos are found after E9.0

cardiovascular system

abnormal myocardium layer morphology ( J:94514 )

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

abnormal heart atrium morphology ( J:94514 )

• at E9.0 only a single atrium is present

abnormal heart ventricle morphology ( J:94514 )

• at E9.0 only a single immature ventricle is present and the lumen of the ventricle is abnormally narrow

trabecula carnea hypoplasia ( J:94514 )

muscle

abnormal myocardium layer morphology ( J:94514 )

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

trabecula carnea hypoplasia ( J:94514 )

Genotype
MGI:3838384

cx5

• 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

Genotype
MGI:3514081

cx6

• Allelic Composition: Hand1^tm1Eno/Hand1⁺; Rr133^tm1Eno/Rr133^tm1Eno
• Genetic Background: Not Specified

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:94514 )

• no mutant embryos are found after E9.5

cardiovascular system

abnormal myocardium layer morphology ( J:94514 )

• the myocardium is poorly developed at E9.0

abnormal heart ventricle morphology ( J:94514 )

• at E9.0 only a single ventricle is present and the size of the ventricular lumen is decreased compared to Hand2 homozygotes as a result of an increase in the amount of cardiac jelly

muscle

abnormal myocardium layer morphology ( J:94514 )

• the myocardium is poorly developed at E9.0