Table 2.
Summary of mutants
| Line | Phenotype | Age | LacZ reporter | Chr | Interval (Mb) | No. of mutants genotyped for mapping | Heritability | Gene/mutation |
|---|---|---|---|---|---|---|---|---|
| Cortical layer formation | ||||||||
| 8 | Cobblestone-like cortical malformation; cleft palate and craniofacial morphology; omphalocele; stiff leg posture or club foot | E18 | 9 | Cena – 31 | 7 | Y | ||
| 13 | Disorganized cortical layers | P21 | Rgs4 | 5 | Cena – 28 | 11 | Y | Reln CTRdel |
| 23a | Weak reporter expression and thinner or no staining in the superficial cortical layer; ventriculomegaly or hydrocephaly | P21 | Rgs4 | Ambiguous | 2 | Y | ||
| 33 | Weak reporter expression and thinner or no staining in the superficial cortical layer; smaller olfactory bulb; ventriculomegaly or hydrocephaly | P21 | Rgs4 | Ambiguous | 19 (7 lamination mutants) | Y | ||
| Corticofugal axon development | ||||||||
| 7 | Axon guidance defect (absent internal capsule); club foot | E18 | TAG1 | 14 | 97–108 | 6 | Y | Phr1 Arg3936Stop |
| 27 | Axon guidance defect; holoprosencephaly; cleft palate | E18 | TAG1 | 2 | 58–81 | 5 | Y | Lrp2Cys4032Ser |
| 48 | Axon growth or guidance defect | E18 | TAG1 | Ambiguous | 8 | Y | ||
| 61 | Axon growth or guidance defect; ventriculomegaly | E18 | TAG1 | Ambiguous | 3 | Yb | ||
| Other neurodevelopmental phenotypes: brain morphology | ||||||||
| 16 | Microcephaly; growth defect; curved or absent fifth digit or triphalangeal thumb; early embryonic lethality (completely resorbed by E18) | E18 | Ambiguous | 8 (4 mutants with microcephaly) | Y | |||
| 42 | Ventriculomegaly or hydrocephaly; growth defect and postnatal lethality | P21 | 8 | 105–130 | 4 | Y | ||
| 55 | Ventriculomegaly or hydrocephaly; anophthalmia or micropthalmia | P21 | Ambiguous | 4 | Y | |||
| 67 | Ventriculomegaly or hydrocephaly | P21 | 11 | 47–69 | 3 | Y | ||
| Other neurodevelopmental phenotypes: neural tube closure | ||||||||
| 44 | Encephalocele; spina bifida; perinatal lethality (small litter size at P21c) | E18 | 8 | 37–122 | 5 | Y | ||
| 49 | Spina bifida, exencephaly or open neural tube; oligodactyly | E18 | 6 | 121–149 | 5 | Y | Lrp6Trp104Arg | |
| 50 | Spina bifida, exencephaly or open neural tube; oligodactyly; perinatal lethality (small litter size at P21c) | E18 | 6 | 85–140 | 6 | Y | Same as line 49d | |
| 68 | Spina bifida, exencephaly or open neural tube | E18 | 3 | 117–143 | 5 | Y | Sec24bTyr84Stop | |
| Other developmental phenotypes | ||||||||
| 11 | Cleft lip and palate; perinatal lethality (small litter size at P21c) | E18 | 14 | 79–108 | 9 | Y | ||
| 18 | Growth defect; skeletal defect | E18 | 11 | 76–100 | 5 | Y | ||
a“Cen” means the centromere. In these lines, the most centromere-proximal SNP was homozygous for A/J, therefore a recombination breakpoint is not further determined.
bHeritability of the axon defect in line 61 has not been confirmed yet.
cThese lines were initially screened at P21 using Rgs4-lacZ, but screened again for embryonic phenotypes due to small litter size, which suggested prenatal or postnatal lethality.
dThe same mutation was found in 2 different lines, which originate from the same G0 mice.