JAX
Mouse Strain Datasheet - 005420
C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/GrsrJ
Also Known As: cauliflower ear 7 Jackson
These mice carry a mutation of the Bmp5 gene that affects the morphology of the ear.
Read More +Genetic overview
| Genetic Background | Generation |
|---|---|
|
|
Bmp5cfe-se7J
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Bmp5 | bone morphogenetic protein 5 |
Gt(ROSA)26Sor
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Gene trapped (Not Applicable) | Gt(ROSA)26Sor | gene trap ROSA 26, Philippe Soriano |
Important Note
This strain is segregating for Gt(ROSA)26Sor.
Detailed Description
Homozygotes have small, round ear pinnae with ridges along the perimeter and both ears are affected. This mutation is 100% penetrant. Unlike short ear mutations of this gene, skeletal abnormalities were not detected by X-ray for this mutant. Both males and females are fertile.
Development
The cauliflower ear mutation arose spontaneously in 2002 in the production colony of C.129S7-Gt(ROSA)26Sor/J (stock #002255) at The Jackson Laboratory. The mutant subline was maintained by sibling breeding for 8 generations, then backcrossed once to BALB/cJ, and then intercrossed. In 2007 sperm were cryopreserved from homozygous Males at generation +F8N1F2.
Expression Data
| Expressed Gene | lacZ, beta-galactosidase, E. coli |
|---|---|
| Site of Expression | All tissues of the developing embryo and in most tissues of the adult mouse. |
Bmp5cfe-se7J
Allele Symbol: Bmp5cfe-se7J
| Allele Name | cauliflower ear short ear 7 Jackson |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | |
| Gene Symbol and Name | Bmp5, bone morphogenetic protein 5 |
| Gene Synonym(s) | AU023399; expressed sequence AU023399; se; short ear |
| Strain of Origin | C.129S7-Gt(ROSA)26Sor/J |
| Chromosome | 9 |
| Molecular Note | The cauliflower ear mutation was found to be allelic with the short ear mutation through a noncomplementation test. |
Gt(ROSA)26Sor
Allele Symbol: Gt(ROSA)26Sor
| Allele Name | gene trap ROSA 26, Philippe Soriano |
|---|---|
| Allele Type | Gene trapped (Not Applicable) |
| Allele Synonym(s) | R26tg; R26R3; ROSA26; ROSA26-lacZ; Rosa26lacZ; TgR(ROSA26)26Sor; gtrosa26 |
| Gene Symbol and Name | Gt(ROSA)26Sor, gene trap ROSA 26, Philippe Soriano |
| Gene Synonym(s) | AV258896; Gtrgeo26; Gtrgeo26; Gtrosa26; Gtrosa26; R26; ROSA26; SETD5-AS1; Thumpd3as1; beta geo; expressed sequence AV258896; gene trap ROSA 26; gene trap ROSA b-geo 26 |
| Expressed Gene | lacZ, beta-galactosidase, E. coli |
| Site of Expression | All tissues of the developing embryo and in most tissues of the adult mouse. |
| Strain of Origin | 129S7/SvEvBrd-Hprt<+> |
| Chromosome | 6 |
| General Note | ES cell line = AB1 or AB2.1. No overt phenotypes in heterozygous or homozygous animals. The trapped gene appears to be ubiquitously expressed during embryonic development and in all hematopoietic cells. |
| Molecular Note | Random insertion of retroviral gene trap vector ROSA, Reverse Orientation with Splice Acceptor, which contains the beta-galactosidase gene and accompanying splice acceptor and neo sequences. The construct was inserted in reverse orientation in the retroviral vector pGen-. The transgene is controlled by an unknown endogenous promoter. lacZ is expressed in all tissues of the developing embryo and in most tissues of the adult transgenic mouse. |
| Mutations Made By | Dr. Philippe Soriano, Mount Sinai School of Medicine |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Bmp5cfe-se7J related
- Developmental Biology Research
- Craniofacial and Palate Defects
Mammalian Phenotype Terms by Genotype
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Bmp5cfe-se7J/Bmp5cfe-se7J
involves: 129S7/SvEvBrd * BALB/cJ
craniofacial phenotype
- abnormal cranium morphology
- male homozygotes have greater skull height than controls, but female homozygotes have a statistically insignificant decrease in skull height (MGI Ref ID J:123049)
- the skull height to skull length ratio is increased in males (MGI Ref ID J:123049)
- the skull height to skull width ratio is increased in males (MGI Ref ID J:123049)
- the skull length to nose length ratio is decreased in females (MGI Ref ID J:123049)
- the skull length to skull width ratio is decreased in both males and females (MGI Ref ID J:123049)
- abnormal cranium size
- slight but significant decrease in the skull length to width ratio (MGI Ref ID J:223062)
- abnormal ear shape
- both ears are smaller than normal and have round ear pinnae with ridges around the perimeter (MGI Ref ID J:123049)
- abnormal nose morphology
- females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant (MGI Ref ID J:123049)
- decreased cranium height
- males and females have shorter skull lengths than do controls (MGI Ref ID J:123049)
- decreased cranium length
- slightly smaller skull length in both males and females (MGI Ref ID J:223062)
- lowered ear position
- (MGI Ref ID J:123049)
- short ears
- both females and males have ear lobes that are approximately half normal length (MGI Ref ID J:223062)
- short mandible
- short maxilla
- shortened upper jaw length is statistically significant in males, but not statistically significant in females (MGI Ref ID J:123049)
- short snout
skeleton phenotype
- abnormal cranium morphology
- male homozygotes have greater skull height than controls, but female homozygotes have a statistically insignificant decrease in skull height (MGI Ref ID J:123049)
- the skull height to skull length ratio is increased in males (MGI Ref ID J:123049)
- the skull height to skull width ratio is increased in males (MGI Ref ID J:123049)
- the skull length to nose length ratio is decreased in females (MGI Ref ID J:123049)
- the skull length to skull width ratio is decreased in both males and females (MGI Ref ID J:123049)
- abnormal cranium size
- slight but significant decrease in the skull length to width ratio (MGI Ref ID J:223062)
- decreased areal bone mineral density
- (MGI Ref ID J:223062)
- decreased bone mineral content
- statistically slightly lower in both females and males (MGI Ref ID J:223062)
- decreased bone mineral density
- whole body bone mineral density is decreased in both females and males (MGI Ref ID J:123049)
- decreased cranium height
- males and females have shorter skull lengths than do controls (MGI Ref ID J:123049)
- decreased cranium length
- slightly smaller skull length in both males and females (MGI Ref ID J:223062)
- short mandible
- short maxilla
- shortened upper jaw length is statistically significant in males, but not statistically significant in females (MGI Ref ID J:123049)
- skeleton phenotype
- no abnormality was found in spine length, ratios of tail length to back length, femur length to back length or spine length to back length (MGI Ref ID J:123049)
hearing/vestibular/ear phenotype
- abnormal ear shape
- both ears are smaller than normal and have round ear pinnae with ridges around the perimeter (MGI Ref ID J:123049)
- hearing/vestibular/ear phenotype
- ABR threshold analysis at three months of age indicates normal hearing (MGI Ref ID J:123049)
- lowered ear position
- (MGI Ref ID J:123049)
- short ears
- both females and males have ear lobes that are approximately half normal length (MGI Ref ID J:223062)
respiratory system phenotype
- abnormal nose morphology
- females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant (MGI Ref ID J:123049)
growth/size/body region phenotype
- abnormal ear shape
- both ears are smaller than normal and have round ear pinnae with ridges around the perimeter (MGI Ref ID J:123049)
- abnormal nose morphology
- females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant (MGI Ref ID J:123049)
- lowered ear position
- (MGI Ref ID J:123049)
- short ears
- both females and males have ear lobes that are approximately half normal length (MGI Ref ID J:223062)
References
Additional - Bmp5cfe-se7J related
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Additional - Gt(ROSA)26Sor related
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