Spontaneous and Induced X-Linked Mouse Traits
| Symbol | Mutant name | Origin | Map position | No. of alleles | Phenotype details and gene mutated if known | References |
| Bhd | broad-headed | R | 35 | 1 | broad heads and snouts in heterozygous females, males die at birth, have aberrant ossification and may have cleft palate | Phillips and Fisher (1978); Reed and Boyd in prep. (1999) |
| Bn | bent-tail | S | central X | 1 | shortened and kinked tails | Garger (1952) |
| Bpaand Str (NsdhlBpa/Str) | bare patches or striated | SRC | 29 | 4 | hyperkeratosis, punctate calcification in the epiphyses of vertebrae, and long bones in heterozygous females, males die in utero; mutations have been found in Nsdhl[NAD(P)-dependent steroid dehydrogenase], an enzyme involved in sterol biosynthesis | Liu et al. (1999) |
| Bw1 | body weight marker 1 | V | proximal X | 1 | increased body weight in males | Dragani et al. (1995) |
| Bw2 | body weight marker 2 | V | central X | 1 | increased body weight in males | Dragani et al. (1995) |
| Bw3 | body weight marker 3 | V | distal X | 1 | increased body weight in males | Dragani et al. (1995); York et al. (1997) |
| crm | cream | S | distal X | 1 | pale yellow coat that is fluorescent in long-wave UV light, in hemizygous males and homozygous females | Hetherington (1977) |
| Fnld | faint-lined | R | 15 | 1 | faint dorsal stripes on heterozygous females, which are also small, males die in utero | Gormally and Boyd (1998) |
| Gs | greasy | S? | 38 | 1 | shiny fur in homozygous females and males | Larsen et al. (1964) |
| gy | gyro ⧣ | R | 65.4 | 1 | hypophosphatemia, rickets, sterility, and inner ear abnormalities in males; the 5′ end of Phex, the endopeptidase mutated in HYP patients and Sms(spermine synthase) are deleted | Lyon et al. (1986); Strom et al. (1997); Lorenz et al. (1999) |
| Hq | harlequin | S | 17 | 1 | small, almost totally bald, homozygous females and males | Barber (1971) |
| Hst3 | hybrid sterility 3 | V | distal X | 1 | sterility in F1 males from crosses between Mus spretus and laboratory strains of mice | Guenet et al. (1990) |
| hyp | hypophosphatemia ⧣, X-linked | S | 65.4 | 1 | hypophosphatemia and rickets seen in males; the 3′ end of Phex, the endopeptidase mutated in HYP patients is deleted | Eicher et al. (1976); Strom et al. (1997); Strom et al. (1998) |
| le | eye–ear reduction | R | syntenic | 1 | anopthalmia, small external ears in homozygous females and males | Hunsicker et al. (1974) |
| lhpd | interspecific hybrid dysplasia | V | central X | 1 | abnormal development of the spongiotrophoblast, influenced by the sex of the conceptus, with a resultant effect on fetal growth | Zechner et al. (1996) |
| lt | irregular teeth | S? | syntenic | 1 | incisors absent in heterozygous females, males die in utero | Phipps (1969) |
| jp, msd, orrsh (Plpjp/msd/rsh) | jimpy, myelin synthesis deficiency or rumpshaker ⧣ | S | 56 | 3 | tremor of hindquarters and convulsions with early death in males caused by mutations inPlp (myelin proteolipid protein); models for Pelizaeus–Merzbacher disease | Meier and MacPike (1970); Dautigny et al. (1986); Griffiths et al. (1990) |
| Li | lined ⧣ | S? | 65.6 | 1 | transverse dorsal stripes in heterozygous females, males die in utero; ribosomal S6 kinase (Rps6ka3), which is mutated in Coffin–Lowry syndrome, and possibly other genes are deleted | Blair et al. (1998a) |
| mdxor (Dmdmdx) | muscular dystrophy ⧣, X-linked | SC | 32 | 4 | tremors and mild inco-ordination, elevated creatine and pyruvate kinase in males; mutations have been found in Dmd (dystrophin), models for Duchenne muscular dystrophy | Bulfield et al. (1984); Chapman et al. (1989) |
| Mo or (Atp7aMo) | mottled ⧣ | SRC | 44 | >20 | Defective pigmentation, wavy vibrissae/coat, connective tissue, and neurological abnormalities, males have allele-dependent time of death, from in utero to adulthood; mutations have been found in Atp7a (ATPase, Cu2+transporting, type 7a), models for Menkes disease | Hunt (1974); Danks (1986); Das et al. (1995); Cecchi et al. (1997); Reed and Boyd (1997); Cunliffe (1999) |
| Paf | patchy fur | S | 73 | 1 | missing fur with hemizygous males more severely affected than homozygous females, male carriers have delayed disjunction at meiotic metaphase I; associated with rearrangements atMid1 locus (midline 1), which is associated with Opitz syndrome | Lane and Davisson (1990); Quaderi et al. (1998) |
| ptd | palate-tail-digits abnormality | S | central X | 1 | tail malformations, hind feet polydactyly and frequent cleft palate in homozygous females and males | Barra (1990) |
| PyLMP | transgenic insertion of LMP | I | 5.0 | 1 | secondary cleft palate and craniofacial malformation, males die shortly after birth; transgenic insertion in Cask (calcium/calmodulin) dependent serine protein kinase | Laverty and Wilson (1998) |
| Rv3 | Rauscher leukemia virus susceptibility-3 | V | syntenic | 1 | CBA strain variant which results in susceptibility to spleen focus formation by Rauscher leukemia virus in males | Heller and Pluznik (1984) |
| sf | scurfy | S | 2.1 | 1 | scaly and tight skins, hypogonadism, thrombocytopenia with death before weaning in males | Lyon et al. (1990) |
| sla | sex-linked anemia | R? | 36.4 | 1 | severe hypochromic anemia, defective intestinal iron transport; mutation in hephaestin (Heph) a ceruloplasmin homologue | Kingston et al. (1978); Vulpe et al. (1999) |
| slf | sex-linked fidget ⧣ | R | In8H (A7-E1) | 1 | slight vertical head shaking in homozygous females and males; Pou3f4 expression abolished in embryonic ear, model for DFN3 | Phillips and Fisher (1978); Phippard et al. (2000) |
| spf (Otcspf) | sparse-fur ⧣ | S? | 3 | 2 | wrinkled skin, paucity of fur and bladder stones in males; mutations found inOtc (ornithine transcarbamylase) | Rosenberg et al. (1983); Veres et al. (1987) |
| Stpy | stripey | S | 65.6 | 1 | transverse dorsal stripes in heterozygous females, males die in utero; ribosomal S kinase (Rps6ka3, also known as Rsk2) and pyruvate dehydrogenase E1α (Pdha1), which is mutated in lactic acidosis, and possibly other genes are deleted | Blair et al. (1998a) |
| Ta (EdaTa) | tabby ⧣ | SRC | 37 | >15 | hair defects, tooth abnormalities and aberrant eccrine sweat glands in males and heterozygous females; mutations found in Eda(ectodysplasin-A), model for anhidrotic ectodermal dysplasia | Srivasta et al. (1997) |
| Td (EbpTd) | tattered ⧣ | R | 2.1 | 2 | hyperkeratosis and craniofacial malformations in heterozygous females, males die in utero with skeletal and developmental defects; mutation in the sterol isomerase Ebp (emopamil-binding protein); model for chondrodysplasia punctata | Derry et al. (1999) |
| Tfm (ArTfm) | testicular feminization ⧣ | S | 36 | 2 | external female genitalia and insensitivity to androgens in males; mutations in Ar(androgen receptor), model for testicular feminization | Lyon et al. (1981a); Charest et al. (1991); Gaspar et al. (1991); Tanaka et al. (1993) |
| Tyl | trembly-like | S | central X | 1 | tremors, seizures and paralysis with death before weaning in males | Sweet et al. (1990) |
| wf | wide-faced | S | 12.7 | 1 | craniofacial malformations in homozygous females and males, males have an increased body weight with age | Boyd et al., (in prep.) |
| Xcat | X-linked cataract | R | 68 | 1 | total lens opacity in homozygous females and males, suggested model for Nance-Horan syndrome | Favor and Pretsch (1990); Zhou et al. (1995) |
| Xid (Btkxid) | X-linked immunodeficiency ⧣ | S | 51 | 1 | defective and impaired immune responses; mutations in Btk (Bruton agammaglobulinemia tyrosine kinase) | Rawlings et al. (1993); Thomas et al. (1993) |
| Xpl | X-linked polydactyly | S | distal X | 1 | preaxial polydactyly and tibial hemimelia in carrier and homozygous females and males | Sweet and Lane (1980) |
| Ym | yellow mottled | S? | 44 | 1 | yellowish mottling of heterozygous females, males die in utero, lies close to, but recombines withMo | Hunsicker (1969) |
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Mutants that carry lesions at genes associated with human genetics disease are indicated by a pound sign (⋕) after the mutant name. Mouse mutants are generally given a name and symbol when they are first identified; these are used throughout this review for clarity, and the mutants described here are arranged in the alphabetical order of the symbol. Once the gene responsible for a mutant has been cloned, current nomenclature rules dictate that the official name for the mutant is (gene symbolmutant name ) and this is given in parentheses beside the original symbol, where appropriate. Mutants with small deletions that remove several genes, e.g., gy, which has a deletion that removes both Phex and Sms,retain their original mutant symbol. The origin of the mutation, if known, is indicated : (C) chemical mutagenesis; (I) insertional mutagenesis; (R) radiation mutagenesis; (S) spontaneous; (V) natural variant. Several reports of X-linked loci affecting various aspects of immune responsive have also been published. These include regulation of the secondary immune response to LDH-C4 (Marsh et al. 1977), to thymus-independent antigens (Zeicher et al. 1977), to spleen focus formation by Rauscher leukemia virus (Heller and Pluznik 1984), and to denatured DNA (Mozes and Fuchs 1974). These have not been included here, as their relationship to each other and to X-linked loci known to be involved in immune regulation, e.g., xid, is unclear. They are indicated by Ir below the mouse X chromosome on Fig. 1.
