Phenotypes associated with this allele

• Allele Symbol: Adam12^tm1Asf
• Allele Name: targeted mutation 1, Atsuko Sehara-Fujisawa
• Allele ID: MGI:2448241
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adam12^tm1Asf/Adam12^tm1Asf	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3056934
cx2	Adam12^tm1Asf/Adam12^tm1Asf Adam15^tm1Bbl/Adam15^tm1Bbl Adam19^Gt(Betageo)1Bbl/Adam19^Gt(Betageo)1Bbl Adam9^tm1Bbl/Adam9^tm1Bbl	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3654840
cx3	Adam12^tm1Asf/Adam12^tm1Asf Adam15^tm1Bbl/Adam15^tm1Bbl Adam17^tm1Imx/Adam17^tm1Imx Adam9^tm1Bbl/Adam9^tm1Bbl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3056935

Genotype
MGI:3056934

hm1

• Allelic Composition: Adam12^tm1Asf/Adam12^tm1Asf
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:81009 )

• approximately 30% died before weaning, most within one week of birth

adipose tissue

decreased brown adipose tissue amount ( J:81009 )

• interscapular brown adipose tissue was reduced in about 30% of mutants, however at 8 weeks and in surviving adults, brown adipose tissue was normal sized

• adipose lobes were smaller than in wild-type and exhibited looser condensation of adipocytes at E16.5

muscle

abnormal skeletal muscle morphology ( J:81009 )

• some perinatal and newborn (E17.5-P1) mutants showed impaired formation of neck and interscapular muscles and at 8 weeks some interscapular muscles remained slightly reduced in size

decreased skeletal muscle fiber density ( J:81009 )

• muscle fibers close to adipose tissues were not as tightly packed in some mutants

Genotype
MGI:3654840

cx2

• Allelic Composition: Adam12^tm1Asf/Adam12^tm1Asf; Adam15^tm1Bbl/Adam15^tm1Bbl; Adam19^{Gt(Betageo)1Bbl}/Adam19^{Gt(Betageo)1Bbl}; Adam9^tm1Bbl/Adam9^tm1Bbl
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:99649 )

• significantly less (4.6%) than the expected Mendelian ratio of 25% of mutants is seen at birth, however normal numbers are seen at E18.5 although less than 1/3 have a visible heartbeat at this time

cardiovascular system

double outlet right ventricle ( J:99649 )

• both the aorta and pulmonic artery emanate from the right ventricle, a more severe malrotation defect than seen in single homozygous Adam19 mutant mice

ventricular septal defect ( J:99649 )

• exhibit a ventricular septal defect at E18.5

abnormal heart valve morphology ( J:99649 )

abnormal mitral valve morphology ( J:99649 )

• thicker and misshapen mitral valve

thick mitral valve ( J:99649 )

abnormal tricuspid valve morphology ( J:99649 )

• misshapen tricuspid valve

tricuspid valve hyperplasia ( J:99649 )

• hyperplastic tricuspid valve

semilunar valve hyperplasia ( J:99649 )

• hyperplastic semilunar valves

Genotype
MGI:3056935

cx3

• Allelic Composition: Adam12^tm1Asf/Adam12^tm1Asf; Adam15^tm1Bbl/Adam15^tm1Bbl; Adam17^tm1Imx/Adam17^tm1Imx; Adam9^tm1Bbl/Adam9^tm1Bbl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality ( J:88801 )

cardiovascular system

abnormal mitral valve morphology ( J:88801 )

• thickened and misshapen valves

thick mitral valve ( J:88801 )

abnormal tricuspid valve morphology ( J:88801 )

• thickened and misshapen valves

thick tricuspid valve ( J:88801 )

abnormal aortic valve morphology ( J:88801 )

• thickened and misshapen valves

thick aortic valve ( J:88801 )

abnormal pulmonary valve morphology ( J:88801 )

• thickened and misshapen valves

thick pulmonary valve ( J:88801 )

vision/eye

eyelids open at birth ( J:88801 )