Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Table 2

List of mouse models that exhibits spina bifida (reviewed in [4, 54]).

Mouse models
Gene or mutants (53 genes)
(1) Aln
(2) Ambra1
(3) Apapb
(4) Axd mutant
(5) Axin1
(6) Cyp26a1
(7) Ds mutant
(8) Dvl2
(9) Fgfr1 chimera
(10) Fkbp8 hypomorph
(11) Fpn1
(12) F2r, F2rl1 (Par1, Par2) (digenic)
(13) Grhl3
(14) Gnaz^−/−; Grhl3^Cre/+ (digenic)
(15) ^gGpr161 (vl mutant)
(16) ct mutant (Grhl3 hypomorph)
(17) Itgb1
(18) ltpk1
(19) Lrp6
(20) Lrp6 (rs mutant, hypomorph)
(21) Map3k4
(22) Mapk4 partial function
(23) Marcksl1 (Mlp)
(24) Med12
(25) Msgn1
(26) Msx1, Msx2 (digenic)
(27) Ndst1
(28) p28IP
(29) Pax3 (Sp mutant)
(30) Pax3 (Sp^2H)
(31) Pax3 (Sp^d)
(32) Ptpn9 (Meg2)
(33) Rab23 (opb mutant)
(34) Rab23 (opb^2)
(35) Rac1^−/−; (digenic)
(36) Sfrp1, Sfrp2 (digenic)
(37) Shroom3
(38) Sp8
(39) Spint2 (HA12)
(40) T (T^c/t^w5 mutant)
(41) Terc
(42) Traf4
(43) Trpm6
(44) Tulp3
(45) Tulp3 (hhkr mutant)
(46) vl mutant
(47) Wnt3a (vt mutant hypomorph)
(48) Zfhx1a
(49) Zic2 hypomorph
(50) Zic2^Ku
(51) g2e
(52) 1B
(53) 97c2
Mouse strain (1 gene)
(54) NOD
PCP genes (4 genes)
(55) Lp, Crc mutants (digenic, heterozygous)
(56) Lp, Ptk7 (digenic, heterozygous)
(57) Vangl^Lp/+, Sec24b^+/− (digenic)
(58) Vangl^Lp/+, Sfrp1^−/−, Sfrp2^+/−, Sfrp5^−/− (4 genes)
Lethal before gestation day 12 (3 genes)
(59) Brca1
(60) Fgfr1 (alpha isoform)
(61) 22C
Spina bifida occulta (13 genes)
(62) Foxc1 (ch mutant)
(63) Foxc2
(64) Lrp6
(65) Nog
(66) Pdgfra
(67) Pdfgc
(68) Pkd1
(69) Prrx1
(70) sno mutant
(71) Tgfb2
(72) T (T^c/+ mutant)
(73) Traf4
(74) Zic1
Mouse models studied in nutrient supplement rescue (5 genes)
(1) Sp^2Hmutant at Pax3 gene
(2) Sp mutant at Pax3 gene
(3) Axd mutant
(4) ct mutant (hypomorph at Grhl3)
(5) Grhl3 null