All Phenotypes Axd MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Axd/Axd	involves: BALB/c * BALB/cAnNCrl * C3H/HeN * C57BL/6	MGI:4948889
ht2	Axd/Axd⁺	(CByJ.Cg-Axd x CF-1)F1	MGI:4414641
ht3	Axd/Axd⁺	CByJ.Cg-Axd	MGI:4414645
ht4	Axd/Axd⁺	involves: ATBR3 * STOCK Cacna1s^mdg	MGI:3837748
ht5	Axd/Axd⁺	involves: BALB/c * BALB/cAnNCrl * C3H/HeN * C57BL/6	MGI:4948890
ht6	Axd/Axd⁺	involves: BALB/cByJ * STOCK Cacna1s^mdg	MGI:2655973
ht7	Axd/Axd⁺	involves: CF-1 * STOCK Cacna1s^mdg	MGI:2655987
cx8	Axd/Axd⁺ Grhl2^{Gt(AC0205)Wtsi}/Grhl2⁺	involves: 129P2/OlaHsd * BALB/c * C3H/HeN * C57BL/6	MGI:4948894
cx9	Axd/Axd⁺ Grhl3^ct/Grhl3⁺	involves: BALB/c * C3H/HeN * C57BL/6 * GFF	MGI:4948895

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

abnormal embryo development ( J:170759 )

• at E10.5, embryos with a large open posterior neuropore frequently exhibit increased ventral curvature of the caudal (spinal) region relative to wild-type or heterozygous littermates

abnormal neural tube closure ( J:170759 )

• abnormalities in spinal neural tube closure are detected from around the 24 somite stage (E9.5)

spina bifida cystica ( J:170759 )

• at E16.5, affected embryos exhibit open spina bifida affecting the low thoracic, lumbar and sacral regions

• at E16.5, the spinal cord is open high in the lumbar region but the size of the motor pool is relatively normal

• more caudally, the neuroepithelium shows increasing degeneration and no motor neurons or typical neuroepithelial structure are found in the sacral region

• by term, the exposed nervous tissue has degenerated and the open vertebral arches are exposed at the dorsal surface

abnormal caudal neuropore morphology ( J:170759 )

• at the 24 somite stage (E9.5), affected embryos show an enlarged posterior neuropore (PNP) unlike wild-type littermates where PNP is very small or closed

• by the 31-32 somite stage (E10.5), affected embryos display very large open PNPs, of up to 3 mm in length

• closure does not progress beyond the level of somite 24

• at the 26 somite stage, the neural folds appear elevated, although closure has not progressed

• by the 31 somite stage, the neural folds are splayed wide apart

nervous system

abnormal neural tube closure ( J:170759 )

• abnormalities in spinal neural tube closure are detected from around the 24 somite stage (E9.5)

spina bifida cystica ( J:170759 )

• at E16.5, affected embryos exhibit open spina bifida affecting the low thoracic, lumbar and sacral regions

• at E16.5, the spinal cord is open high in the lumbar region but the size of the motor pool is relatively normal

• more caudally, the neuroepithelium shows increasing degeneration and no motor neurons or typical neuroepithelial structure are found in the sacral region

• by term, the exposed nervous tissue has degenerated and the open vertebral arches are exposed at the dorsal surface

abnormal caudal neuropore morphology ( J:170759 )

• at the 24 somite stage (E9.5), affected embryos show an enlarged posterior neuropore (PNP) unlike wild-type littermates where PNP is very small or closed

• by the 31-32 somite stage (E10.5), affected embryos display very large open PNPs, of up to 3 mm in length

• closure does not progress beyond the level of somite 24

• at the 26 somite stage, the neural folds appear elevated, although closure has not progressed

• by the 31 somite stage, the neural folds are splayed wide apart

vision/eye

delayed eyelid fusion ( J:170759 )

failure of eyelid fusion ( J:170759 )

• at E16.5, mutant eyelids are open, unlike in wild-type fetuses

cellular

decreased cell proliferation ( J:170759 )

• at the 23-28 somite stage, mice exhibit decreased cell proliferation in the hindgut endoderm and neuroepithelium compared with wild-type mice

• at the 31-33 somite stage, mice exhibit decreased cell proliferation in the hindgut endoderm compared with wild-type mice

limbs/digits/tail

vestigial tail ( J:170759 )

• at E16.5, mice exhibit a shortened remnant tail

growth/size/body

spina bifida cystica ( J:170759 )

• at E16.5, affected embryos exhibit open spina bifida affecting the low thoracic, lumbar and sacral regions

• at E16.5, the spinal cord is open high in the lumbar region but the size of the motor pool is relatively normal

• more caudally, the neuroepithelium shows increasing degeneration and no motor neurons or typical neuroepithelial structure are found in the sacral region

• by term, the exposed nervous tissue has degenerated and the open vertebral arches are exposed at the dorsal surface

Allelic Composition	Axd/Axd⁺
Genetic Background	(CByJ.Cg-Axd x CF-1)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

abnormal neural tube morphology ( J:3845 )

limbs/digits/tail

curly tail ( J:3845 )

• the frequency of statistically expected heterozygous embryos having curly tails from this mating and the reciprocal mating declined when the dams were given supplemental methionine (180mg/kg) on day 8 and 9 of pregnancy

nervous system

abnormal neural tube morphology ( J:3845 )

Allelic Composition	Axd/Axd⁺
Genetic Background	CByJ.Cg-Axd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

abnormal neural tube morphology ( J:746 )

• Background Sensitivity: the backcross progression from strain-of-origin to BALB/cByJ resulted in a 50% increase in occurrence of open neural tube and tail defects

• females receiving IP injections of 70mg/kg methionine on days 8 and 9 of pregnancy had 41% fewer embryos with neural tube defects

incomplete caudal neuropore closure ( J:746 )

• posterior neural tube closure defects are seen

• during normal development soft tissue can superficially heal some open neural tube lesions

limbs/digits/tail

curly tail ( J:746 )

• a variety of curled tail morphologies are seen, some self-correct between E12 and birth

nervous system

abnormal neural tube morphology ( J:746 )

• Background Sensitivity: the backcross progression from strain-of-origin to BALB/cByJ resulted in a 50% increase in occurrence of open neural tube and tail defects

• females receiving IP injections of 70mg/kg methionine on days 8 and 9 of pregnancy had 41% fewer embryos with neural tube defects

incomplete caudal neuropore closure ( J:746 )

• posterior neural tube closure defects are seen

• during normal development soft tissue can superficially heal some open neural tube lesions

Allelic Composition	Axd/Axd⁺
Genetic Background	involves: ATBR3 * STOCK Cacna1s^mdg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:10783 )

• severely afflicted pups die shortly after birth

limbs/digits/tail

abnormal tail morphology ( J:10783 )

• Background Sensitivity: mutants on the ATBR3 background exhibit a variable penetrance of tail anomalies such as curly tail which are not observed on a CF-1 background; incidence of abnormalities increases with increased inbreeding

curly tail ( J:10783 )

nervous system

open neural tube ( J:10783 )

• Background Sensitivity: 31% of F2 mutants on an ATBR3 background exhibit open neural tube defects that extend primarily from the lumbosacral region to the bases of the tail, unlike mutants on a CF-1 background that do not show neural tube defects

• incidence of open neural tube defects in F3 neonates is less than observed in F2 neonates

reproductive system

reduced fertility ( J:10783 )

• reduced reproductive performance with further inbreeding

• dams older than 8 months yield fewer mean implants, higher resorption rates and fewer viable embryos with axial defects than heterozygous dams younger than 8 months

decreased litter size ( J:10783 )

• curly-tailed dams have smaller litter sizes

• dams 8 months or older have fewer mutant offspring than younger females

embryo

open neural tube ( J:10783 )

• incidence of open neural tube defects in F3 neonates is less than observed in F2 neonates

Allelic Composition	Axd/Axd⁺
Genetic Background	involves: BALB/c * BALB/cAnNCrl * C3H/HeN * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

delayed neural tube closure ( J:170759 )

• most heterozygotes exhibit a delay in posterior neuropore (PNP) closure relative to wild-type littermates

• in most cases, PNP closure is complete by the 35 somite stage or soon after; in contrast, most wild-type embryos show closed PNPs by the 29-31 somite stage

abnormal caudal neuropore morphology ( J:170759 )

• at the 26-28, 29-31 and 32-34 somite stages, heterozygotes display a higher mean PNP length relative to wild-type littermates

nervous system

delayed neural tube closure ( J:170759 )

• most heterozygotes exhibit a delay in posterior neuropore (PNP) closure relative to wild-type littermates

• in most cases, PNP closure is complete by the 35 somite stage or soon after; in contrast, most wild-type embryos show closed PNPs by the 29-31 somite stage

abnormal caudal neuropore morphology ( J:170759 )

• at the 26-28, 29-31 and 32-34 somite stages, heterozygotes display a higher mean PNP length relative to wild-type littermates

limbs/digits/tail

curly tail ( J:170759 )

• Background Sensitivity: on the BALB/c background, delayed PNP closure manifests at later stages as a tail flexion defect or curly tail in ~40-50% of heterozygotes

Allelic Composition	Axd/Axd⁺
Genetic Background	involves: BALB/cByJ * STOCK Cacna1s^mdg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:10783 )

• 50% of mutants expected from matings of heterozygous mice to wild-type mice die around birth

limbs/digits/tail

abnormal tail morphology ( J:10783 )

• Background Sensitivity: unlike mutants on a CF1 background that exhibit no tail defects, 22% of F1 mutants on a Balb/cByJ background exhibit tail anomalies, including curly tails

curly tail ( J:10783 )

reproductive system

decreased litter size ( J:10783 )

• curly-tailed dams have smaller litter sizes

• dams 8 months or older have fewer mutant offspring than younger females

nervous system

abnormal neural tube morphology ( J:10783 )

• Background Sensitivity: 0.05%-1% of animals exhibit this phenotype on the BALB/cByJ background compared to 0% on a CF-1 background

open neural tube ( J:10783 )

embryo

abnormal neural tube morphology ( J:10783 )

• Background Sensitivity: 0.05%-1% of animals exhibit this phenotype on the BALB/cByJ background compared to 0% on a CF-1 background

open neural tube ( J:10783 )

Allelic Composition	Axd/Axd⁺
Genetic Background	involves: CF-1 * STOCK Cacna1s^mdg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:10783 )

• Background Sensitivity: heterozygotes on the CF-1 background do not exhibit curly tails or open neural tube defects as observed on several other backgrounds

Allelic Composition	Axd/Axd⁺ Grhl2^{Gt(AC0205)Wtsi}/Grhl2⁺
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C3H/HeN * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)
Grhl2^{Gt(AC0205)Wtsi} mutation (0 available); any Grhl2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

delayed neural tube closure ( J:170759 )

• 6 of 35 embryos show complete posterior neuropore closure by the 30-34 somite stage versus none of 17 stage-matched Axd heterozygous embryos, indicating amelioration of the delayed PNP closure phenotype

abnormal caudal neuropore morphology ( J:170759 )

• at the 30-31 and 32-34 somite stages, mice exhibit a significant reduction in the mean posterior neuropore length relative to Axd heterozygous embryos

nervous system

delayed neural tube closure ( J:170759 )

abnormal caudal neuropore morphology ( J:170759 )

• at the 30-31 and 32-34 somite stages, mice exhibit a significant reduction in the mean posterior neuropore length relative to Axd heterozygous embryos

Allelic Composition	Axd/Axd⁺ Grhl3^ct/Grhl3⁺
Genetic Background	involves: BALB/c * C3H/HeN * C57BL/6 * GFF

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axd mutation (1 available); any Axd mutation (1 available)
Grhl3^ct mutation (2 available); any Grhl3 mutation (53 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

curly tail ( J:170759 )

• the frequency of curled tails is increased 2.5-fold compared to in Grhl3^ct heterozygotes

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