Csf1<sup>tl</sup> (colony stimulating factor 1; tooth less mutant) - Rat Genome Database

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Gene: Csf1tl (colony stimulating factor 1; tooth less mutant) Rattus norvegicus
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Symbol: Csf1tl
Name: colony stimulating factor 1; tooth less mutant
RGD ID: 12910954
Description: A spontaneous tooth less mutation was maintained in inbred Fisher colony maintained at the University of Massachusetts Medical School. The homozygous mutant is a 10-bp insertion near the beginning of the open reading of the Csf1 gene that yields a truncated, nonfunctional protein and an early stop codon.
ASSOCIATED WITH abnormal bone marrow cavity morphology; abnormal long bone morphology; absent teeth; ASSOCIATED WITH Edentulous Mouth; osteopetrosis
Type: allele  of Csf1  
Previously known as: Csf1tl
Is Marker For: Strains:   LEW-tl   F344tl  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mutation of macrophage colony stimulating factor (Csf1) causes osteopetrosis in the tl rat. Dobbins DE, etal., Biochem Biophys Res Commun 2002 Jun 28;294(5):1114-20.
2. The osteopetrotic mutation toothless (tl) is a loss-of-function frameshift mutation in the rat Csf1 gene: Evidence of a crucial role for CSF-1 in osteoclastogenesis and endochondral ossification. Van Wesenbeeck L, etal., Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14303-8.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Csf1tl-var1 chr2 195396104 195396105 - GCGCCCCGCG insertion mRatBN7.2
Csf1tl-var1 chr2 210550359 210550360 - GCGCCCCGCG insertion Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Csf1tl


Expression


Sequence

Nucleotide Sequences


Additional Information