SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Table 1

Limb Abnormalities in Smoc1^Tp/Tp Mutants

Genotype	Talipes Valgus (No. of Affected/Total No. of Pups)	Forelimb Abnormalities (No. of Limbs)	Hindlimb Syndactyly (No. of Limbs)					Other External Abnormalities (No. of Pups)	4^th and 5^th Metatarsal Fusion (No. of Affected/Total No. of Limbs)
Genotype	Talipes Valgus (No. of Affected/Total No. of Pups)	Forelimb Abnormalities (No. of Limbs)	None	2/3^a	3/4^b	2/3/4^c	4 Digits	Other External Abnormalities (No. of Pups)
Postnatal Day 0

Smoc1^Tp/+ (line 1, C57BL/6J)	0/42	0	84	0	0	0	0
Smoc1^Tp/+ (line 2, ICR mixed)	0/38	0	76	0	0	0	0
Smoc1^Tp/Tp (line 1, C57BL/6J)	10/10	0	3	0	3	12	2
Smoc1^Tp/Tp (line 2, ICR mixed)	13/17	1^d	1	1	9	4	19	cleft palate (3)

Postnatal Day 14

Smoc1^Tp/+ (line 1, C57BL/6J)	0/70	0	140	0	0	0	0
Smoc1^Tp/Tp (line 1, C57BL/6J)	11/11	18^e	2	7	3	8	2	hypoplastic thumbs (5)	9/10^f

^aSyndactyly between the 2^nd and 3^rd digits.

^bSyndactyly between the 3^rd and 4^th digits.

^cSyndactyly between the 2^nd, 3^rd, and 4^th digits.

^d2/3 soft tissue syndactyly.

^eEleven limbs showed 2/3 webbing, four limbs showed 2/3 soft tissue syndactyly, and one limb showed 3/4 syndactyly.

^fBased on examination of skeletal preparations.