Phenotypes Associated with This Genotype

Genotype
MGI:2178040

• Allelic Composition: Smarcad1^tm1Gos/Smarcad1^tm1Gos
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

premature death ( J:56661 )

• on a mixed genetic background, 52% of homozygotes die by 5 weeks of age

postnatal lethality, incomplete penetrance ( J:56661 )

• Background Sensitivity: on a mixed genetic background, 52% of homozygotes die by 5 weeks of age, with 15% dying within P1, 22% dying within P7, and an additional 15% dying at P14-P21; in contrast, homozygotes of a coisogenic background exhibit perinatal lethality

skeleton

abnormal axial skeleton morphology ( J:56661 )

• Background Sensitivity: on a mixed genetic background, homozygotes display skeletal dysplasias with incomplete penetrance and variable expressivity; however, these skeletal abnormalities are significantly different from those observed on an coisogenic background

asymmetric sternocostal joints ( J:56661 )

• 3 of 17 homozygotes display asymmetric fusion of the thoracic ribs to the sternum as well as incomplete ossification of the sternebrae

rib fusion ( J:56661 )

• 1 of 17 homozygotes shows fusion of the 10th and 11th rib

lumbar vertebral fusion ( J:56661 )

• 1 of 17 homozygotes shows fusion of the 4th and 5th lumbar vertebrae

growth/size/body

decreased birth body size ( J:56661 )

• homozygous mutant newborns are smaller than wild-type

decreased body size ( J:56661 )

• size reduction persists through postnatal growth period

decreased body weight ( J:56661 )

• at 5 weeks, homozygotes show a ~25% reduction in total body weight relative to wild-type mice

postnatal growth retardation ( J:56661 )

decreased fetal size ( J:56661 )

• at late fetal stages, homozygotes are smaller than wild-type or heterozygous mutant counterparts

reproductive system

decreased oocyte number ( J:56661 )

♀ • a number of fertile as well as infertile female homozygotes exhibit reduced oocyte numbers

abnormal fertility/fecundity ( J:56661 )

• homozygotes exhibit very low fecundity

reduced female fertility ( J:56661 )

♀

decreased litter size ( J:56661 )

• intercrosses of homozygotes produce a reduced average litter size relative to intercrosses of heterozygotes (4.2 vs 7 in 15 litters)

• test matings of mutant males with wild-type females produce a normal litter size, whereas matings of mutant females with wild-type males generate a reduced average litter size (3.9 in 9 litters)

reduced male fertility ( J:56661 )

♂

cellular

decreased oocyte number ( J:56661 )

♀ • a number of fertile as well as infertile female homozygotes exhibit reduced oocyte numbers