Mouse Genome Informatics
hm1
    Smarcad1tm1Gos/Smarcad1tm1Gos
129S2/SvPas-Smarcad1tm1Gos
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• Background Sensitivity: on a coisogenic background, a number of homozygotes die within 12 hrs after birth; in contrast, homozygotes of a mixed (129S2/SvPas x C57BL/6) genetic background die after P1
• Background Sensitivity: on a coisogenic background, many homozygotes are stillborn; in contrast, homozygotes of a mixed (129S2/SvPas x C57BL/6) genetic background die postnatally

skeleton
• Background Sensitivity: on a coisogenic genetic background, homozygotes display skeletal dysplasias with incomplete penetrance and variable expressivity; however, these skeletal abnormalities are significantly different from those observed on a mixed (129S2/SvPas x C57BL/6) background
• ribs are connected to the sternum rectangularly
• all coisogenic homozygotes have a xiphoid process that is split or bifid
• all coisogenic homozygotes have a significantly shorter sternum than wild-type mice
• homozygotes display a reduced ribcage, as measured by the distance from the xiphoid process to the 7th and 13th thoracic vertebrae
• a severery reduced thorax is likely to result in respiratory distress, which might account for the high incidence of perinatal loss noted on a coisogenic background
• ~50% of homozygotes lack the normal curvature of the vertebral column, in particular the thoracic kyphosis
• in addition, ~20% of homozygotes lack the normal cervical lordosis

growth/size/body
• homozygous mutant newborns are smaller than wild-type
• size reduction persists through postnatal growth period
• at 5 weeks, homozygotes show a ~25% reduction in total body weight relative to wild-type mice
• at late fetal stages, homozygotes are smaller than wild-type or heterozygous mutant counterparts

reproductive system
• a number of fertile as well as infertile female homozygotes exhibit reduced oocyte numbers (J:56661)
• homozygotes exhibit very low fecundity
• only 26% of coisogenic mutant females test mated with wild-type or heterozygous males give rise to progeny (J:56661)
• intercrosses of coisogenic homozygotes result in only 4 litters with 1 or 2 pups; all offspring are either stillborn or die within P1
• only 60% of coisogenic mutant males test mated with wild-type or heterozygous females give rise to progeny (J:56661)

cardiovascular system
• on a coisogenic background, a subset of homozygotes exhibit cardiac hypertrophy

digestive/alimentary system
• on a coisogenic background, a subset of homozygotes display gastrointestinal tumors or a rudimentary appendix

immune system
N
• on a coisogenic background, homozygotes exhibit normal lymphoid organs as well as normal composition of B and T cells (J:56661)


Mouse Genome Informatics
hm2
    Smarcad1tm1Gos/Smarcad1tm1Gos
involves: 129S2/SvPas * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 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
• on a mixed genetic background, 52% of homozygotes die by 5 weeks of age

skeleton
• 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
• 3 of 17 homozygotes display asymmetric fusion of the thoracic ribs to the sternum as well as incomplete ossification of the sternebrae
• 1 of 17 homozygotes shows fusion of the 10th and 11th rib
• 1 of 17 homozygotes shows fusion of the 4th and 5th lumbar vertebrae

growth/size/body
• homozygous mutant newborns are smaller than wild-type
• size reduction persists through postnatal growth period
• at 5 weeks, homozygotes show a ~25% reduction in total body weight relative to wild-type mice
• at late fetal stages, homozygotes are smaller than wild-type or heterozygous mutant counterparts

reproductive system
• a number of fertile as well as infertile female homozygotes exhibit reduced oocyte numbers (J:56661)
• homozygotes exhibit very low fecundity
• 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)


Mouse Genome Informatics
ht3
    Smarcad1tm1Gos/Smarcad1+
involves: 129S2/SvPas * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• Background Sensitivity: on a mixed genetic background, heterozygotes display skeletal dysplasias with incomplete penetrance and variable expressivity; however, these skeletal abnormalities are significantly different from those observed on an coisogenic background
• 3 of 35 heterozygotes show unilateral fusion of the 8th rib to the sternum; however, the overall number of ribs remains unchanged
• 3 of 35 heterozygotes lack a processus spinosus on T2