Phenotypes Associated with This Genotype

Genotype
MGI:2176849

• Allelic Composition: Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt; Tg(Msx2-cre)5Rem/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * CD-1 * FVB/N

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

limbs/digits/tail

oligodactyly ( J:104411 )

• forelimbs missing digit II or III

• hindlimb missing digit I

• forelimb digits I and V missing phalanges

• hindlimb digits II and V missing phalanges

abnormal forelimb stylopod morphology ( J:104411 )

• mildly hypoplastic

absent deltoid tuberosity ( J:104411 )

• deltoid tuberosity missing

abnormal forelimb zeugopod morphology ( J:66266 , J:104411 )

• zeugopod elements are mildly hypoplastic (J:66266)

absent radius ( J:66266 )

• radius is always absent in mutants

abnormal hindlimb stylopod morphology ( J:66266 , J:104411 )

• stylopod is severely reduced in hindlimbs (11/19 bilaterally, 4/19 unilaterally) but only mildly affected in forelimbs (J:66266)

abnormal hindlimb zeugopod morphology ( J:66266 , J:104411 )

• zeugopod elements are mildly hypoplastic (J:66266)

abnormal limb development ( J:104411 )

small limb buds ( J:66266 )

• limb buds are reduced in size detected at ~E10.25

abnormal digit development ( J:66266 )

• digit I is missing in hindlimbs (13/19 bilaterally, 5/19 unilaterally) and digit II or III is missing in the forelimbs (12/19 bilaterally, 5/19 unilaterally)

skeleton

absent deltoid tuberosity ( J:104411 )

• deltoid tuberosity missing

absent radius ( J:66266 )

• radius is always absent in mutants

embryo

small limb buds ( J:66266 )

• limb buds are reduced in size detected at ~E10.25

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:66266