Biology Reference
In-Depth Information
TABLE 8.6. Mouse mutants with peripheral neural defects
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Myelin protein
Mpz
,
P0
,
Mpz
1 (92.4)
R
T
1
zero KO
Mpp
GATA binding
Gata3
Gata3
2 (7)
R
T
2
protein 3 KO
Nociceptin
R
T
3
receptor KO
Brain-derived
Bdnf
Bdnf
2 (62)
SD
T
4-7
neurotrophic
factor KO
Nicotinic acetyl
Acra9
Acra9
5 (41)
R
T
10
choline receptor
a9 KO
Homeobox A1 KO
Hoxa1
Hoxa1
6 (26.3)
R, E
T
11-15
Neurotrophin 3 KO
Nt3
,
Ntf3
Ntf3
6 (61)
R
T
6, 16, 17
Neurotrophin
Ntrk3
,
Ntrk3
7 (39)
SD
T
6, 18-20
receptor C KO
trkc
Trembler
Tr
,
Pmp22
Pmp22
11 (34.5)
D, SD
S
21-24
Neurogenin1 KO
Ngn1
,
Neurod3
13 (35)
R
T
25,26
Neurod3
Neurotrophin
Trkb
Ntrk2
13 (36)
R, SD
T
6, 18-20
receptor B KO
Ntrk2
Pou4f1
KO
Pou4f1
Pou4f1
14
R
T
27
Brn3a
,
Brn3.0
erbB4
receptor tg
erbB4
erbB4
D
T
28
The table includes the major genes or loci known to be involved in deafness and/or balance defects. Only
the key references describing the ear phenotype and the initial identification of the gene are included,
so the list is not intended to be comprehensive. The chromosomal localization is given where this is
known, with the distance in cM from the centromere given in parentheses. KO, Knock-out. NK, Not
known. Under Inheritance column: R, Recessive; D, Dominant; SD, Semidominant; E, Epistatic; M,
Maternal effect. Under Origin column: R, Radiation-induced; S, Spontaneous; T, Transgenics and knock-
outs; C, Chemical mutagenesis; I, Transgenic Insertional mutations.
References: 1, Martini et al. 1995; 2, Pata et al. 1999; 3, Nishi et al. 1997; 4, Bianchi et al. 1996; 5, Ernfors
et al. 1994; 6, Ernfors et al. 1995; 7, Jones et al. 1994; 8, Schorle et al. 1996; 9, Zhang et al. 1996; 10, Vetter
et al. 1999; 11, Chisaka et al. 1992; 12, Gavalas et al. 1998; 13, Lufkin et al. 1991; 14, Mark et al. 1993; 15,
Rossel and Cappechi 1999; 16, Fariñas et al. 1994; 17, Fritzsch et al. 1997a; 18, Fritzsch et al. 1995; 19,
Minichiello et al. 1995; 20, Schimmang et al. 1995; 21, Adlkofer et al. 1995; 22, Suter et al. 1992; 23, Wang
et al. 1995; 24, Zhou et al. 1994; 25, Ma et al. 1998; 26, Fritzsch et al. 1999a; 27, McEvilly et al. 1996; 28,
Rio et al. 1999.
contralateral efferent supply to the inner ear arises from rhombomere 4
of the developing hindbrain, and this projection across the midline is
abnormal or absent in
Hoxb1
or
Gata3
mutants (Studer et al. 1996; Pata
et al. 1999). The nicotinic acetyl choline receptor a9 subunit is normally
expressed in sensory hair cells, and in mice with mutations of this gene the
