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Mouse Strain information

APB ID

8423

Added

19/01/2018

Last Edited

25/01/2018

Strain nomenclature:

C57BL/6-Kif1bpem1Hmy/Hmy

Nickname:

Kif1bp KO #2

Genetics

Strain Types

Mutant strain

Genetic Details

CRISPR targeted

Mode of Inheritance

Recessive

1. Affected Gene Name: KIF1 binding protein

Chromosome	10
Affected Gene Symbol	Kif1bp
Genetic alteration of gene:	Large portion of KBP exon 1 was excised using CRISPR-Cas9 guide-RNA. Results is complete absence of KBP protein in the homozygous animals. This is a second independent line of knockout mice generated using the same guide RNA as APB ID 8310.
Location on chromosome (bp):	62538626-62578457 bp, - strand From VEGA annotation of GRCm38)
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:1919570
Synonyms	0710007C18Rik, 2510003E04Rik, mKIAA1279
Allele Name	kinesin family binding protein; endonuclease-mediated mutation 1, Heather Young
Allele Symbol	Kif1bpem1Hmy
MGI Allele Accession ID	MGI:6150321
Allele synonyms:	Kif1bp; KBP

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Neonatal lethal. Die at birth due to breathing difficulties. Mice display broad peripheral neuropathies, as well as small olfactory bulbs and reduced white mater tracts (anterior commissure).

Phenotype Heterozygous State

Normal

Original Genetic Background

C57BL/6

Genetic Background Currently Maintained

C57BL/6

Strain identification

How is this strain characterised?

Genotyping

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Unknown

Does it Model a Human Condition?

Yes

Description of human condition:

Goldberg-Shprintzen syndrome

Applicable Research Areas

Developmental biology
Neurobiology

Keywords

Nerve
olfactory
commissures

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 5 mice)

Are live mice available?

Unknown

MTA needs to be signed?

Yes