Spin4^em2Jbn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Spin4^em2Jbn
• Name: spindlin family, member 4; endonuclease-mediated mutation 2, Jeffrey Baron
• MGI ID: MGI:7621835
• Synonyms: short-deletion
• Gene: Spin4 Location: ChrX:94066116-94070288 bp, - strand Genetic Position: ChrX, 41.83 cM
• Alliance: Spin4^em2Jbn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing technology was used to generate a truncating deletion of sequences downstream of the second Tudor domain of the encoded protein. This line has only Tudor domain 3 removed. Histone array analysis demonstrated that the truncated protein has severely diminished histone-binding capacity. (J:347154)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Spin4^em2Jbn/Spin4^em2Jbn	involves: C57BL/6J
ht2	Spin4^em2Jbn/Spin4^+	involves: C57BL/6J
ot3	Spin4^em2Jbn/Y	involves: C57BL/6J

Phenotypes:

Affected Systems	hm1	ht2	ot3
show or hide all annotated terms Sex:
cardiovascular system			√
increased heart weight			√
cellular			√
increased chondrocyte proliferation			√
growth/size/body	√	√	√
increased heart weight			√
increased body size			√
increased body weight	√	√	√
increased body length			√
increased kidney weight			√
increased lung weight			√
increased liver weight			√
increased spleen weight			√
hematopoietic system			√
increased spleen weight			√
immune system			√
increased spleen weight			√
limbs/digits/tail			√
long tibia			√
liver/biliary system			√
increased liver weight			√
nervous system			√
increased brain weight			√
renal/urinary system			√
increased kidney weight			√
respiratory system			√
increased lung weight			√
skeleton			√
increased chondrocyte proliferation			√
long tibia			√
increased long bone epiphyseal plate size			√
increased chondrocyte number			√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Spin4 Mutation: 1 strain or line available

References

• Original: J:347154 Lui JC, et al., Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome. JCI Insight. 2023 May 8;8(9)
• All: 1 reference(s)