Biology Reference
In-Depth Information
inflammation suggests a candidate gene that could be investigated for
changes in children most severely affected.
2.2 Inner Ear Malformations
Gross malformations (morphogenetic defects) of the inner ear occur in
many different mutants, as listed in Table 8.2. Many of these show semicir-
cular canal defects, such as truncations of one or more of the canals (Fig.
8.2), and the preponderance of these may reflect ascertainment bias because
they are relatively easy to detect. However, defects can range from a ten-
dency for a single canal to be thin or truncated (Fig. 8.2B), to an extreme
failure of the otic vesicle to develop into anything more than an elongated
TABLE 8.2. Mouse mutants with inner ear malformations
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Wocko
Wo
NK
1
D
I
1
Eyes absent 1
Eya1
Eya1
1 (10.4)
SD
T
2-4
homologue KO
Splotch
Pax3
Pax3
1 (44.0)
SD
S, R
5-9
Sp
Dreher
dr, sst
Lmx1a
1 (88.2)
R
S
10, 11
Lmx1a
Looptail
Lp
NK
1 (93.7)
SD
S
5, 12, 13
Prx2
KO
Prx2, S8
Prx2
2 (19)
R, E
T
14
Fidget
fi
NK
2 (34.0)
R
S
15
Distal-less
Dlx2
Dlx2
2 (44)
R, E
T
16
homeobox 2 KO
Kreisler
kr Krlm
Krml
2 (91.0)
R
R, C
17-23
MafB
Wheels
Whl
NK
4
D
C
26, 27
Maloney sarcoma
Mos
Mos
4 (0)
SD
T
28, 29
oncogene KO
Sightless
Sig
NK
6 (1)
SD
R
30-34
Dlx5
KO
Dlx5
Dlx5
6 (2)
R
T
35, 36
Homeobox A1 KO
Hoxa1
Hoxa1
6 (26.3)
R, E
T
37-41
Homeobox A2 KO
Hoxa2
Hoxa2
6 (26.3)
R
T
42-45
Nijmegen waltzer
nv
NK
7 (4.2)
R
S
46, 47
Fibroblast growth
Fgfr2
Fgfr2
7 (63)
R
T
48
factor receptor 2,
isoform IIIb, KO
Hmx3
KO
Hmx3
Hmx3
7 (65)
R, E
T
49, 50
Nkx5.1
Hmx2
KO
Hmx2
Hmx2
7 (65)
R, E
T
51
Nkx5.2
Head bobber
hb
NK
7 (65)
R
I
52
Fibroblast growth
Fgf3, int-2
Fgf3
7 (72.4)
R
T
53
factor 3 KO
