Phenotypes associated with this allele

• Allele Symbol: Smarcad1^tm1Gos
• Allele Name: targeted mutation 1, Achim Gossler
• Allele ID: MGI:2177964
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarcad1^tm1Gos/Smarcad1^tm1Gos	129S2/SvPas-Smarcad1^tm1Gos	MGI:2178041
hm2	Smarcad1^tm1Gos/Smarcad1^tm1Gos	involves: 129S2/SvPas * C57BL/6	MGI:2178040
ht3	Smarcad1^tm1Gos/Smarcad1^+	involves: 129S2/SvPas * C57BL/6	MGI:3612126

Genotype
MGI:2178041

hm1

• Allelic Composition: Smarcad1^tm1Gos/Smarcad1^tm1Gos
• Genetic Background: 129S2/SvPas-Smarcad1^tm1Gos

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

cellular

decreased oocyte number ( J:56661 )

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:56661 )

• 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

neonatal lethality, incomplete penetrance ( J:56661 )

• 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

skeleton

abnormal axial skeleton morphology ( J:56661 )

• 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

abnormal sternocostal joint morphology ( J:56661 )

• ribs are connected to the sternum rectangularly

split xiphoid process ( J:56661 )

• all coisogenic homozygotes have a xiphoid process that is split or bifid

short sternum ( J:56661 )

• all coisogenic homozygotes have a significantly shorter sternum than wild-type mice

small thoracic cage ( J:56661 )

• 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

abnormal spine curvature ( J:56661 )

• ~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

cardiac hypertrophy ( J:56661 )

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

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 )

♀ • only 26% of coisogenic mutant females test mated with wild-type or heterozygous males give rise to progeny

decreased litter size ( 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

reduced male fertility ( J:56661 )

♂ • only 60% of coisogenic mutant males test mated with wild-type or heterozygous females give rise to progeny

cardiovascular system

cardiac hypertrophy ( J:56661 )

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

digestive/alimentary system

abnormal digestive system morphology ( J:56661 )

• on a coisogenic background, a subset of homozygotes display gastrointestinal tumors or a rudimentary appendix

immune system

immune system phenotype ( J:56661 )

N • on a coisogenic background, homozygotes exhibit normal lymphoid organs as well as normal composition of B and T cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
asphyxiating thoracic dystrophy		DOID:0050592	OMIM:PS208500	J:208500

Genotype
MGI:2178040

hm2

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

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

Genotype
MGI:3612126

ht3

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

skeleton

abnormal axial skeleton morphology ( J:56661 )

• 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

asymmetric sternocostal joints ( J:56661 )

• 3 of 35 heterozygotes show unilateral fusion of the 8th rib to the sternum; however, the overall number of ribs remains unchanged

abnormal thoracic vertebrae morphology ( J:56661 )

• 3 of 35 heterozygotes lack a processus spinosus on T2