Phenotypes Associated with This Genotype

Genotype
MGI:3617909

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

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

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