MGI phenotypes (allele matching)
C3H101H-NsdhlStr-1H/H
| Status | Available to order |
| EMMA ID | EM:02581 |
| Citation information | RRID:IMSR_EM:02581 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C3H101H-NsdhlStr-1H/H |
| Alternative name | Striated (C3H101H-Nsdhl |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | NsdhlStr-1H |
| Gene/Transgene symbol | Nsdhl |
Information from provider
| Provider | RJS Phillips |
| Provider affiliation | Medical Research Council |
| Genetic information | A transition point mutation altering residue 508 from a C to a T. This alters the corresponding amino acid 98 from a proline to a lysine in the encoded protein. |
| Phenotypic information | Heterozygous females show transverse striping similar to that of Ta/+ females. However, the dark stripes in Str/+ females are due to shortening of the hairs and not due to a lack of zigzags. There is a shortage of auchenes and guard hairs but zigzags and awls occur in approximately the normal ratio. Hemizygous males die between 11.5 and 13 dpc. Viability in females appears to be normal. |
| Breeding history | Backcrossed to C3H/HeH x 101/H. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- CK syndrome / Orphanet_251383
- CHILD syndrome / Orphanet_139
MGI phenotypes (gene matching)
- abnormal coat/ hair morphology / MGI
- irregular coat pigmentation / MGI
- abnormal guard hair morphology / MGI
- abnormal auchene hair morphology / MGI
- alopecia / MGI
- short hair / MGI
- focal hair loss / MGI
- short limbs / MGI
- abnormal autopod morphology / MGI
- kinked tail / MGI
- short tail / MGI
- abnormal skin condition / MGI
- hyperkeratosis / MGI
- decreased body weight / MGI
- decreased body size / MGI
- cataract / MGI
- abnormal maternal nurturing / MGI
- disheveled coat / MGI
- abnormal limb morphology / MGI
- abnormal digit morphology / MGI
- abnormal tail morphology / MGI
- brachydactyly / MGI
- variable body spotting / MGI
- premature endochondral bone ossification / MGI
- abnormal hair shaft morphology / MGI
- abnormal vertebral column morphology / MGI
- short vertebral column / MGI
- abnormal skeleton morphology / MGI
- clinodactyly / MGI
- mortality/aging / MGI
- postnatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
Literature references
- Striated, a new sex-linked gene in the house mouse;Phillips RJS ;1963;Genetical research;4;151-3; 0
- The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.;Liu X Y, Dangel A W, Kelley R I, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker P R, Mallon A M, Strivens M A, Bate R, Miller W, Rhodes M, Brown S D, Herman G E, ;1999;Nature genetics;22;182-7; 10369263