Phenotypes associated with this allele

• Allele Symbol: Sall4^Gt(XE027)Byg
• Allele Name: gene trap XE027, BayGenomics
• Allele ID: MGI:3587949
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sall4^Gt(XE027)Byg/Sall4^Gt(XE027)Byg	B6;129P2-Sall4^Gt(XE027)Byg	MGI:3617908
ht2	Sall4^Gt(XE027)Byg/Sall4^+	B6;129P2-Sall4^Gt(XE027)Byg	MGI:3617909
ht3	Sall4^Gt(XE027)Byg/Sall4^+	involves: 129P2/OlaHsd * Black Swiss * C57BL/6	MGI:3617910
cx4	Sall4^Gt(XE027)Byg/Sall4^+ Tbx5^tm1.1Jse/Tbx5^+	involves: 129P2/OlaHsd * Black Swiss * C57BL/6	MGI:3617911

Genotype
MGI:3617908

hm1

• Allelic Composition: Sall4^Gt(XE027)Byg/Sall4^Gt(XE027)Byg
• Genetic Background: B6;129P2-Sall4^Gt(XE027)Byg

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:105332 , J:138922 )

• die before E8.0 (J:105332)

• arrest between E5.75 and E6.0 (J:138922)

embryo

embryonic growth arrest ( J:138922 )

• arrest between E5.75 and E6.0

Genotype
MGI:3617909

ht2

• Allelic Composition: Sall4^Gt(XE027)Byg/Sall4⁺
• Genetic Background: B6;129P2-Sall4^Gt(XE027)Byg

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:105332 )

• about 20% of heterozygotes develop a severe phenotype and die by E11.5; the rest develop a milder phenotype and are born alive

• Background Sensitivity: defects are less severe than when crossed into a Black Swiss background

limbs/digits/tail

abnormal hindlimb bud morphology ( J:105332 )

• at E9.5, in the more severe cases defects in hindlimb bud outgrowth are seen

abnormal carpal bone morphology ( J:105332 )

• on the forelimb multiple carpal bone defects are seen including reduced size of the trapezoid and capitate, fusion of the trapezoid with the adjacent digit 1 metacarpal, and abnormal junction of the digit 2 metacarpal with both the trapezoid and trapezium

abnormal digit morphology ( J:105332 )

• defects are more severe on the hindlimb and include triphalangeal digit 1 or shortened digit 1

abnormal phalanx morphology ( J:105332 )

• forelimb digit 1 proximal phalange is mildly elongated

elongated metacarpal bones ( J:105332 )

• forelimb digit 1 and digit 4 metacarpals are mildly elongated

skeleton

abnormal carpal bone morphology ( J:105332 )

• on the forelimb multiple carpal bone defects are seen including reduced size of the trapezoid and capitate, fusion of the trapezoid with the adjacent digit 1 metacarpal, and abnormal junction of the digit 2 metacarpal with both the trapezoid and trapezium

abnormal phalanx morphology ( J:105332 )

• forelimb digit 1 proximal phalange is mildly elongated

elongated metacarpal bones ( J:105332 )

• forelimb digit 1 and digit 4 metacarpals are mildly elongated

embryo

abnormal hindlimb bud morphology ( J:105332 )

• at E9.5, in the more severe cases defects in hindlimb bud outgrowth are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duane-radial ray syndrome		DOID:0060747	OMIM:607323	J:105332

Genotype
MGI:3617910

ht3

• Allelic Composition: Sall4^Gt(XE027)Byg/Sall4⁺
• Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

mortality/aging

embryonic lethality during organogenesis ( J:105332 )

• Background Sensitivity: the severity of defects is increased when crossed into a Black Swiss background

cardiovascular system

disorganized myocardium ( J:105332 )

• in less severe cases the myocardium is disorganized

thin myocardium ( J:105332 )

• in severe cases a univentricular heart is present with thin myocardium

abnormal heart development ( J:105332 )

• at E9.5 in severely affected embryos defects in cardiac patterning can be seen including decreased expression of Gja5 and expansion of the left ventricular marker Nppa across the interventricular groove

muscular ventricular septal defect ( J:105332 )

• heterozygotes that survive past E11.5 often have ventricular septal defects

common ventricle ( J:105332 )

• in severe cases a univentricular heart is present with thin myocardium

abnormal interventricular groove morphology ( J:105332 )

• the interventricular groove is less pronounced or in severe cases absent

muscle

disorganized myocardium ( J:105332 )

• in less severe cases the myocardium is disorganized

thin myocardium ( J:105332 )

• in severe cases a univentricular heart is present with thin myocardium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duane-radial ray syndrome		DOID:0060747	OMIM:607323	J:105332

Genotype
MGI:3617911

cx4

• Allelic Composition: Sall4^Gt(XE027)Byg/Sall4⁺; Tbx5^tm1.1Jse/Tbx5⁺
• Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:105332 )

• about 80% die between E11.5 and the perinatal period

limbs/digits/tail

abnormal digit morphology ( J:105332 )

• forelimb digit 1 elements are significantly longer than in either single heterozygote

• elongation of digit 1 is detectable at E12.5

abnormal forelimb morphology ( J:105332 )

• occasional severe truncation of the anterior forelimb

cardiovascular system

abnormal atrioventricular valve morphology ( J:105332 )

abnormal mitral valve morphology ( J:105332 )

• the mitral valve was displaced downward toward the apex of the heart

common atrium ( J:105332 )

• in some cases the atrial septum is absent

perimembraneous ventricular septal defect ( J:105332 )

muscular ventricular septal defect ( J:105332 )

• perimembranous and multiple muscular septal defects are seen