Nck1<tm1Paw> Targeted Allele Detail MGI Mouse (MGI:2667151)

Nck1^tm1Paw
Targeted Allele Detail

Nomenclature

Symbol:	Nck1^tm1Paw
Name:	non-catalytic region of tyrosine kinase adaptor protein 1; targeted mutation, Tony Pawson
MGI ID:	MGI:2667151
Synonyms:	Nck1^-, Nck1^IRES-lacZ
Gene:	Nck1 Location: Chr9:100392712-100446472 bp, - strand Genetic Position: Chr9, Syntenic

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:83956
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Mutation
description

Allele Type:	Targeted (Reporter)
Mutation:	Insertion
	An IRES-beta-galactosidase cassette was inserted into the first coding exon 29 nucleotides downstream from the start codon. This disrupts one of three SH3 domains. (J:83956)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Nck1 Mutation:	20 strains or lines available

Expression

In Mice Carrying this Mutation:

67 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	cn2	cn3	cx4
behavior/neurological				√
ataxia				√
abnormal gait				√
		hm1	cn2	cn3	cx4
cellular					√
abnormal cell physiology					√
		hm1	cn2	cn3	cx4
embryogenesis					√
abnormal developmental patterning					√
abnormal embryonic tissue morphology					√
abnormal neural tube morphology/development					√
incomplete cephalic closure					√
wavy neural tube					√
notochord degeneration					√
abnormal extraembryonic tissue morphology					√
abnormal allantois morphology					√
dilated allantois					√
failure of chorioallantoic fusion					√
		hm1	cn2	cn3	cx4
growth/size			√	√
decreased body size			√	√
		hm1	cn2	cn3	cx4
homeostasis/metabolism			√
albuminuria			√
		hm1	cn2	cn3	cx4
lethality/postnatal				√
postnatal lethality				√
		hm1	cn2	cn3	cx4
lethality/prenatal-perinatal					√
embryonic lethality during organogenesis					√
		hm1	cn2	cn3	cx4
nervous system				√	√
abnormal pars anterior morphology				√
abnormal axon guidance				√
abnormal spinal cord grey matter morphology				√
abnormal spinal cord dorsal column morphology				√
abnormal central pattern generator function				√
abnormal neural tube morphology/development					√
incomplete cephalic closure					√
wavy neural tube					√
		hm1	cn2	cn3	cx4
renal/urinary system			√
albuminuria			√
abnormal renal glomerulus morphology			√
abnormal podocyte			√
abnormal podocyte foot process morphology			√
abnormal renal tubule morphology			√
		hm1	cn2	cn3	cx4
normal phenotype		N
no abnormal phenotype detected		N

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Nck1^tm1Paw/Nck1^tm1Paw	involves: 129/Ola * ICR
normal phenotype no abnormal phenotype detected (J:83956)
Genotype	Allelic Composition	Genetic Background
cn2	Nck1^tm1Paw/Nck1^tm1Paw Nck2^tm3Paw/Nck2^tm3Paw Tg(Nphs2-cre)1Seq/0	involves: 129S1/Sv * 129X1/SvJ
growth/size decreased body size (J:107630) by 4 days of age, mutants are smaller than wild-type littermates; this is more apparent by 3 weeks of age homeostasis/metabolism albuminuria (J:107630) at 3.5 and 4.5 weeks of age, mutants show excessive amounts of albumin in their urine, indicating damage to the filtration barrier renal/urinary system albuminuria (J:107630) at 3.5 and 4.5 weeks of age, mutants show excessive amounts of albumin in their urine, indicating damage to the filtration barrier abnormal renal glomerulus morphology (J:107630) by 3.5 weeks of age, focal sclerosis and other defects are observed in the glomeruli abnormal podocyte (J:107630) by 3.5 weeks of age, loss of podocytes is observed abnormal podocyte foot process morphology (J:107630) at E16.5, differentiated foot processes are absent in mutant embryos; in 4-day old mutants, there is complete fusion of foot processes around the capillary loops of the glomeruli abnormal renal tubule morphology (J:107630) mutants have a buildup of proteinaceous material in the kidney tubules
Genotype	Allelic Composition	Genetic Background
cn3	Nck1^tm1Paw/Nck1^tm1Paw Nck2^tm1Paw/Nck2^tm4Paw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL
lethality/postnatal postnatal lethality (J:129166) mice die within a few days of birth with empty stomachs likely due to suckling defects one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity nervous system abnormal pars anterior morphology (J:129166) reduced abnormal axon guidance (J:129166) axons aberrantly re-cross the midline of the grey matter of the spinal cord interneurons aberrantly re-cross the midline of the spinal cord abnormal spinal cord grey matter morphology (J:129166) axons aberrantly re-cross the midline of the grey matter of the spinal cord abnormal spinal cord dorsal column morphology (J:129166) mice exhibit a shallow dorsal funiculus and does not widen in adulthood compared to controls abnormal central pattern generator function (J:129166) mice exhibit synchronous firing of bilateral ventral motor neurons behavior/neurological ataxia (J:129166) one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity abnormal gait (J:129166) mice exhibit a hoping gait that is maintained to adulthood growth/size decreased body size (J:129166) one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity
Genotype	Allelic Composition	Genetic Background
cx4	Nck1^tm1Paw/Nck1^tm1Paw Nck2^tm1Paw/Nck2^tm1Paw	involves: 129/Ola * ICR
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:83956) no double homozygous mutant mice born double homozygotes present at Mendelian ratios at E8.5 by E10.5 double homozygotes reduced to one third of expected no double homozygous mutant embryos by E12.5 cellular abnormal cell physiology (J:83956) decreased fibroblast mobility actin fiber abnormalities embryogenesis abnormal developmental patterning (J:83956) deficient axial rotation abnormal embryonic tissue morphology (J:83956) abnormal neural tube morphology/development (J:83956) incomplete cephalic closure (J:83956) neural tube closure to level of otic vesicles but no further anteriorly wavy neural tube (J:83956) notochord degeneration (J:83956) initial development is normal at the 2 to 4 somite stage degenerates rapidly after initial formation abnormal extraembryonic tissue morphology (J:83956) abnormal allantois morphology (J:83956) growing toward headfold structures dilated allantois (J:83956) allantois misshapen and balloon like failure of chorioallantoic fusion (J:83956) lack of chorioallantoic fusion due to misshapen allantois failure to develop definitive embryonic circulation nervous system abnormal neural tube morphology/development (J:83956) incomplete cephalic closure (J:83956) neural tube closure to level of otic vesicles but no further anteriorly wavy neural tube (J:83956)

References

Original:	J:83956 Bladt F et al., "The murine Nck SH2/SH3 adaptors are important for the development of mesoderm-derived embryonic structures and for regulating the cellular actin network." Mol Cell Biol 2003 Jul;23(13):4586-97
All:	6 reference(s)

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